Distúrbio multissistêmico com manifestações variáveis resultante de um defeito no sistema de fosforilação oxidativa mitocondrial (OXPHOS).
Introdução
O que você precisa saber de cara
A Doença da fosforilação oxidativa mitocondrial é um distúrbio em que as células apresentam falhas no seu sistema de respiração e produção de energia. Esse problema pode atingir múltiplos órgãos e costuma manifestar dificuldades de movimento, fraqueza nos músculos, problemas para engolir ou pausas na respiração durante o sono. No Brasil, a condição ainda não conta com um protocolo clínico e diretrizes terapêuticas (PCDT) próprio nem remédios específicos fornecidos pela rede pública. O cuidado dos pacientes envolve o acompanhamento médico multidisciplinar focado no alívio de cada um dos sintomas.
Distúrbio multissistêmico com manifestações variáveis resultante de um defeito no sistema de fosforilação oxidativa mitocondrial (OXPHOS).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 542 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 1319 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
82 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Combined oxidative phosphorylation deficiency 2
A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Mitochondrial complex IV deficiency, nuclear type 22
An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy, encephalopathy, fatal lactic acidosis, and isolated complex IV deficiency.
Combined oxidative phosphorylation deficiency 3
A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.
Optic atrophy 7 with or without auditory neuropathy
A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss.
Combined oxidative phosphorylation deficiency 34
An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure.
Leigh syndrome
An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
Combined oxidative phosphorylation deficiency 10
An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Combined oxidative phosphorylation deficiency 7
A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.
Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism.
Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay
An autosomal recessive mitochondrial disorder with multisystemic and highly variable manifestations. Affected individuals suffer from a peripheral neuropathy, with distal muscle weakness and atrophy, and distal sensory impairment. Additional variable features include early-onset hypotonia and global developmental delay, poor or absent motor skills, exercise intolerance, poor growth, cerebellar signs, spasticity, and seizures. Biochemical analysis may show deficiencies in mitochondrial respiratory complex. Lactic acidosis is frequently observed.
Mitochondrial DNA depletion syndrome 8A
A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
Combined oxidative phosphorylation deficiency 29
An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy.
Coenzyme Q10 deficiency, primary, 7
An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.
Spastic ataxia 3, autosomal recessive
A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.
Combined oxidative phosphorylation deficiency 30
An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV.
Combined oxidative phosphorylation deficiency 31
An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood.
Mitochondrial complex V deficiency, mitochondrial 2
A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course.
Mitochondrial complex I deficiency, nuclear type 25
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 7
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Combined oxidative phosphorylation deficiency 6
A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Mitochondrial complex III deficiency, nuclear type 7
A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.
Mitochondrial complex III deficiency, nuclear type 5
A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
Neuropathy, ataxia, and retinitis pigmentosa
A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
Leber hereditary optic neuropathy
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
Combined oxidative phosphorylation deficiency 40
An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy.
Combined oxidative phosphorylation deficiency 9
A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.
Combined oxidative phosphorylation deficiency 8
A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected.
Mitochondrial complex I deficiency, nuclear type 26
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN26 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 14
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN14 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial DNA depletion syndrome 13
An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content.
Combined oxidative phosphorylation deficiency 14
A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes.
D-bifunctional protein deficiency
Disorder of peroxisomal fatty acid beta-oxidation.
Myopathy with lactic acidosis and sideroblastic anemia 2
A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia.
Myopathy with lactic acidosis and sideroblastic anemia 1
A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth.
Mitochondrial complex V deficiency, nuclear type 3
A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
Mitochondrial complex IV deficiency, nuclear type 23
A primary mitochondrial disease, a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. MC4DN23 is an autosomal recessive form characterized by infantile-onset encephalopathy. Clinical features include brain atrophy, severe developmental delay, seizures, and dyskinetic movement abnormalities.
Mitochondrial complex IV deficiency, nuclear type 20
An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, failure to thrive, hypotonia, delayed development, increased serum lactate and metabolic acidosis. Death in infancy occurs due to cardiorespiratory failure. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV.
Mitochondrial complex I deficiency, nuclear type 4
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial DNA depletion syndrome 3
A disorder due to mitochondrial dysfunction characterized by onset in infancy of progressive liver failure, hypoglycemia, increased lactate in body fluids, and neurologic abnormalities including hypotonia, encephalopathy, peripheral neuropathy. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes and mtDNA depletion.
Mitochondrial DNA depletion syndrome 21
An autosomal recessive mitochondrial disorder characterized by ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Multiple mtDNA deletions and depletion are detected in muscle, as well as mitochondrial respiratory chain deficiencies.
Mitochondrial DNA depletion syndrome 1, MNGIE type
A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.
Combined oxidative phosphorylation deficiency 22
A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.
Mitochondrial complex V deficiency, nuclear type 2
A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
Mitochondrial complex IV deficiency, nuclear type 5
An autosomal recessive, severe mitochondrial disease with multisystemic manifestations and early onset. Clinical features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. Brain imaging shows bilaterally symmetrical necrotic lesions in subcortical brain regions. Mortality is high, due to episodes of severe metabolic acidosis and coma.
Mitochondrial complex IV deficiency, nuclear type 11
An autosomal recessive mitochondrial disorder with onset in childhood or adolescence. MC4DN11 is characterized by walking difficulties, cerebellar ataxia, dystonia, choreoathetotic movements and dysarthria. Additional features may include sensory axonal neuropathy, cerebellar atrophy, and mild speech delay. Cognitive function is normal. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
Mitochondrial complex I deficiency, nuclear type 8
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 29
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN29 transmission pattern is consistent with autosomal recessive inheritance.
Combined oxidative phosphorylation deficiency 15
An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.
Mitochondrial complex I deficiency, nuclear type 12
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Deafness, aminoglycoside-induced
A form of sensorineural deafness characterized by moderate-to-profound hearing loss and mitochondrial inheritance. It is induced by exposure to aminoglycosides.
Perrault syndrome 4
An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Mitochondrial complex V deficiency, nuclear type 5
A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3-methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance.
Mitochondrial complex IV deficiency, nuclear type 2
An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure.
Mitochondrial complex IV deficiency, nuclear type 13
An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency.
Mitochondrial complex III deficiency, nuclear type 4
A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance.
Mitochondrial complex III deficiency, nuclear type 10
A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN10 is an autosomal recessive form characterized by fetal bradycardia, poor feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low mitochondrial complex III activity and lactic acidosis.
Mitochondrial complex I deficiency, nuclear type 3
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN3 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 22
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 21
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN21 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 2
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN2 inheritance is autosomal recessive.
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Mitochondrial DNA depletion syndrome 5
A disorder due to mitochondrial dysfunction. It is characterized by infantile onset of hypotonia, neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria in some patients.
Pontocerebellar hypoplasia 6
A disorder characterized by an abnormally small cerebellum and brainstem, infantile encephalopathy, generalized hypotonia, lethargy and poor feeding. Recurrent apnea, intractable seizures occur early in the course of this condition.
Perrault syndrome 6
A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive.
Spinocerebellar ataxia 28
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA28 is an autosomal dominant cerebellar ataxia (ADCA) with a slow progressive course and no evidence of sensory involvement or cognitive impairment.
Mitochondrial complex IV deficiency, nuclear type 7
An autosomal recessive mitochondrial disorder characterized by encephalomyopathy resulting in variable clinical manifestations. Features include muscle weakness, gait disturbances, neurodegeneration, cognitive decline, metabolic acidosis, feeding difficulties, poor overall growth, cortical visual impairment, and hypertrophic cardiomyopathy. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV.
Mitochondrial complex IV deficiency, nuclear type 3
An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy.
Mitochondrial complex IV deficiency, nuclear type 1
An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure.
Mitochondrial complex I deficiency, nuclear type 6
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 37
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN37 features include developmental delay, cerebral atrophy, epilepsy, growth retardation, congenital myopathy with disproportion of fibers, and severely decreased activity of complex I. MC1DN37 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial complex I deficiency, nuclear type 17
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN17 transmission pattern is consistent with autosomal recessive inheritance.
Mitochondrial DNA depletion syndrome 17
An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number.
Variantes genéticas (ClinVar)
199 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 5 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
65 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença da fosforilação oxidativa mitocondrial
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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Mitochondria are central hubs integrating cellular bioenergetics, redox balance, innate immune signaling, and metabolic homeostasis. During bacterial infections, these organelles are recurrent targets of pathogen-derived toxins, secreted effectors, and host inflammatory mediators, leading to a state broadly defined as mitochondrial stress. This stress encompasses alterations in oxidative phosphorylation, mitochondrial dynamics, calcium handling, reactive oxygen species (ROS) production, and activation or disruption of mitochondrial quality control pathways such as mitophagy. In this perspective, we propose mitochondrial stress as a conceptual framework linking bacterial infection and post-infectious metabolic disease. Using enteric bacterial pathogens such as Salmonella enterica serovars Typhimurium and Typhi, together with Vibrio parahaemolyticus, as conceptual models, we synthesize current evidence showing how distinct bacterial strategies converge on mitochondrial dysfunction and immunometabolic reprogramming of host cells. We argue that, while mitochondrial stress responses may initially support antimicrobial defense, their incomplete resolution may contribute to long-lasting metabolic and inflammatory alterations in epithelial, immune, and metabolic tissues. Persistent mitochondrial dysfunction may contribute to insulin resistance, chronic inflammation, and increased susceptibility to metabolic disease after infection. By framing mitochondrial stress as a central integrator of infection and metabolism, this perspective highlights key knowledge gaps and identifies mitochondria-centered pathways as potential targets to prevent or mitigate post-infectious metabolic sequelae.
DNA2 acts as a brake on β cell insulin hypersecretion and diet-induced metabolic dysfunction.
DNA replication helicase/nuclease 2 (DNA2) is an evolutionarily conserved nuclease-helicase with known role in maintaining nuclear genome stability. However, its potential involvement in metabolic regulation and disease remains unclear. This study investigates the role of DNA2 in pancreatic β cell physiology and diabetes pathogenesis. β cell-specific DNA2 knockout mice (DNA2INS2-/-) were generated and fed either a chow diet (CD) or high-fat diet (HFD). Metabolic phenotyping, insulin secretion assays, transcriptomic profiling, mitochondrial function analysis, and ultrastructural imaging were performed. INS-1 cells were used to assess the functions of DNA2 in vitro through knockdown, overexpression and site-directed mutagenesis. DNA2INS2-/- mice exhibited normal metabolic profiles under CD, but developed severe hyperglycemia, hyperinsulinemia, insulin resistance, and ectopic lipid deposition upon HFD feeding. This phenotype was accompanied by increased β cell proliferation and glucose-stimulated insulin secretion. RNA sequencing revealed the dysregulation of mitochondrial regulatory genes in DNA2-deficient islets. Functional assays confirmed that DNA2 deletion enhanced mitochondrial ATP production and oxidative phosphorylation, whereas its overexpression suppressed mitochondrial activity. Domain-specific mutagenesis demonstrated that both nuclease and helicase activities are essential for DNA2-mediated metabolic regulation. Our findings identify DNA2 as a negative regulator of mitochondrial bioenergetics and insulin secretion in β cells. By limiting mitochondrial activity, DNA2 serves as a rheostat that prevents β cell overactivation during metabolic stress, thereby preserving systemic glucose homeostasis.
Bioenergetic impairment in schizophrenia: role of mitochondrial signaling in synaptic dysfunction - a systematic review.
Mitochondrial dysfunction represents a critical pathophysiological mechanism in schizophrenia, potentially linking bioenergetic impairment to synaptic dysfunction and cognitive deficits. Converging evidence suggests that deficits in oxidative phosphorylation may drive the synaptic pathology contributing to treatment-resistant cognitive and negative symptoms. To systematically review the evidence linking mitochondrial bioenergetic dysfunction to synaptic impairment in schizophrenia, examining structural, functional, and molecular mechanisms across multiple methodological approaches. Following PRISMA guidelines, we searched PubMed/MEDLINE, Embase, PsycINFO, and Web of Science from 2000 to 2025 for original research studies investigating mitochondrial function and synaptic dysfunction in schizophrenia. Two independent reviewers screened 2,224 articles, with 29 studies meeting inclusion criteria. Quality was assessed using the Newcastle-Ottawa Scale (median score 7/9). Twenty-nine studies representing 2,847 participants demonstrated consistent mitochondrial dysfunction across postmortem (n = 10), neuroimaging (n = 8), and molecular/cellular (n = 11) investigations. Postmortem studies revealed reduced complex I (18%-35%) and complex IV activity (22%-28%) in prefrontal cortex, with concurrent synaptic density reductions (27%). Neuroimaging studies demonstrated 20%-22% reductions in ATP synthesis rates correlating with cognitive deficits (r = 0.48) and negative symptoms (r = -0.42). First-episode antipsychotic-naïve patients exhibited comparable bioenergetic abnormalities, indicating primary pathophysiology rather than medication effects. Molecular studies identified impaired calcium homeostasis, oxidative stress (27%-35% glutathione reductions in synaptic compartments), and novel pseudogene regulatory mechanisms perpetuating complex I deficits. Peripheral biomarkers including platelet complex I activity and cell-free mitochondrial DNA showed disease specificity and correlation with cognitive impairment. Substantial methodological heterogeneity precluded meta-analysis but provided complementary evidence across analytical levels. Mitochondrial bioenergetic impairment represents a core, potentially modifiable pathophysiological mechanism driving synaptic dysfunction in schizophrenia. Regional specificity (prefrontal cortex, hippocampus) and cell-type selectivity (pyramidal neurons) provide mechanistic insights into cognitive symptom profiles. Early presence and progressive worsening suggest critical intervention windows. Mitochondrial-targeted therapies merit investigation as novel approaches for treatment-resistant cognitive and negative symptoms.
Metabolic dysfunction and mitochondrial failure in Alzheimer's disease: integrating pathophysiology, clinical evidence and emerging interventions.
Alzheimer's disease (AD) is a gradual and irreversible decline in the brain's ability to function which is not only signified by amyloid-beta plaques and neurofibrillary tangles but also by and metabolic and mitochondrial changes that have a negative impact on the classical neuropathological hallmarks. It is becoming increasingly clear that the central roles in the process of synaptic dysfunction, neuronal death and cognitive decline are played by the brain's impaired glucose utilization, insulin resistance, lipid metabolism alterations, and energy homeostasis disruption. Mitochondrial dysfunctions in AD comprising of oxidative phosphorylation defects, ATP production decrease, reactive oxygen species generation over and above the normal level, poor mitochondrial dynamics, and vacuolar-type H+-ATPase-mediated cell death are the factors that further worsen the situation and hence speed up the process of neuronal death and eventually, disease progression. The metabolic and mitochondrial disturbances have a two-way relationship with amyloid-beta and tau pathology, neuroinflammation, and oxidative stress, thus creating a self-sustaining cycle of neurodegeneration. Besides, clinical and neuroimaging studies, fluorodeoxyglucose positron emission tomography, cerebrospinal fluid biomarkers, and peripheral metabolic profiling all support the notion that metabolic impairment is an early and clinically relevant feature of AD very convincingly. Thus, the attention of the scientific community has turned more and more toward the approaches that use the metabolic and mitochondrial pathways as their target. The new treatments are coming, including insulin sensitizers, ketogenic and Mediterranean diets, mitochondrial-targeted antioxidants, exercise, metabolic modulators, and new drugs, all aimed at bringing back equilibrium to bioenergetics and letting neurons live longer. In this review, we have considered the current mechanistic insights, clinical evidence, and therapeutic advances related to metabolic dysfunction and mitochondrial failure in AD together and their potential as early biomarkers and modifiable targets for disease prevention and treatment that are highlighted.
Publicações recentes
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Loss of TRPV1 may shift capsaicin response from MAPK-CASC11-MYC protection to mitochondrial apoptosis in glioblastoma U87 cells.
📚 EuropePMC1 artigos no totalmostrando 200
Iron overload damages mitochondria and induces metabolic rewiring of hematopoietic stem cells towards glycolysis.
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The EMBO journalTherapeutic potential of Qihuang Biwen Formula and its bioactive compounds for the treatment of ulcerative colitis in Drosophila and mice.
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Frontiers in immunologyIntegrating Multi-Omics Data to Uncover Causal Links Between Mitochondria-Related Genes and Chronic Obstructive Pulmonary Disease: A Mendelian Randomization Study.
International journal of chronic obstructive pulmonary diseaseMitochondrial stress as a conceptual interface between bacterial infection and post-infectious metabolic disease.
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American journal of medical genetics. Part AHADHA in Cardiovascular Disease: From Mitochondrial Dysfunction to Therapeutic Targets.
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Journal of molecular medicine (Berlin, Germany)DNA2 acts as a brake on β cell insulin hypersecretion and diet-induced metabolic dysfunction.
Frontiers in cell and developmental biologyMitochondrial Adaptations in Skeletal Muscle Following Incretin-Based Therapies: In Vitro.
Journal of cachexia, sarcopenia and muscleIntegrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.
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Journal of cachexia, sarcopenia and muscleChloroplast-Inspired Nanoassemblies for Ischemic Stroke Therapy: Cross-Kingdom Recoupling with Mitochondrial Metabolism.
ACS nano1β,6α-Dihydroxyeudesm-4(15)-ene Protects Against MPP+-Induced Cytotoxicity in SH-SY5Y Cells: An In Vitro Model of Parkinson's Disease.
Journal of medicinal foodIroning out COPD: ferroptosis-driven immune dysregulation, metabolic rewiring, and precision therapeutic opportunities.
Frontiers in immunologyBioenergetic impairment in schizophrenia: role of mitochondrial signaling in synaptic dysfunction - a systematic review.
Frontiers in cell and developmental biologyCurrent perspectives on circadian regulation of mitochondrial dynamics in mood disorders and perioperative stress.
Frontiers in pharmacologyMetabolic dysfunction and mitochondrial failure in Alzheimer's disease: integrating pathophysiology, clinical evidence and emerging interventions.
Frontiers in neurologyFocused Ultrasound Stimulation on the Spleen Ameliorates DSS-Induced Neuroinflammation Through the Notch Signaling Pathway.
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Current diabetes reviewsMitochondrial Iron Handling and Lipid Peroxidation as Drivers of Ferroptosis.
International journal of molecular sciencesCOG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
PLoS geneticsSurvival After Massive Potassium Cyanide Ingestion Without Antidote in a Tertiary Care Setting.
CureusClinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.
Neurology. GeneticsMolecular mechanism underlying the specific RNA recognition of mitochondrial helicase DDX28 and its critical role in mitoribosomal biogenesis.
Structure (London, England : 1993)Molecular and immunological heterogeneity of eosinophilic esophagitis: Insights and subtyping.
PloS onePPRC1 is a prognostic biomarker and key regulator of mitochondrial oxidative phosphorylation in multiple myeloma.
Annals of medicineAstrocytic Mitochondria Transplantation Rescues Neuron Loss and Dendritic Injuries in Acute Cerebral Ischemic Stroke Mouse Model by Flexibly Regulating Mitochondria Dynamics.
Annals of neurologyGlycosomal Phosphoenolpyruvate Carboxykinase CRISPR/Cas9-Deletion and Its Role in Trypanosoma cruzi Metacyclogenesis and Infectivity in Mammalian Host.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyCardiometabolic adaptations in the cave nectar bat Eonycteris spelaea.
Communications biologyAlizarin induces a multidirectional mechanism of anti-cancer action in cervical cancer and prostate cancer cells.
Scientific reportsBioenergetic Profiling of Lymphocytes in Patients With Visceral Leishmaniasis (VL) and Post Kala-Azar Dermal Leishmaniasis (PKDL).
Parasite immunologyThe goal attainment scale in primary mitochondrial disease: Construct validity and lessons learned from a randomized controlled trial.
Molecular genetics and metabolismProteomic mapping of Rosa damascena nanovesicles reveals plastid mitochondrial metabolic convergence and antimicrobial peptides.
Plant signaling & behaviorMitochondrial metabolic vulnerabilities in high-grade serous ovarian cancer.
Biochimica et biophysica acta. Reviews on cancerTranscriptomic analysis reveals synaptic dysregulation and mitochondrial dysfunction in autism spectrum disorder.
Brain, behavior, & immunity - healthIron, arginine, and redox metabolism in peripheral blood mononuclear cells distinguishes sickle cell disease and pulmonary hypertension.
HemaSphereModulation of KATP channels by diazoxide preserves mitochondrial function and barrier integrity under staurosporine-induced epithelial stress.
British journal of pharmacologySigma-1 receptor regulates HIV-1 and methamphetamine-induced endothelial/pericyte barrier impairment via strain-specific inflammatory responses and mitochondrial dysregulation.
Journal of neuroinflammationMitochondrial and Ribosomal Stress Underlying Pronuclear Envelope Breakdown Failure: Insights From Single-Cell Transcriptomics in Human Zygotes.
Molecular reproduction and developmentMolecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression.
CureusTranscriptomic and proteomic insights into progressive myoclonus epilepsy, EPM1.
Disease models & mechanismsTofacitinib repairs inflammation and mitochondrial dysregulation in GM-CSF-reprogrammed RA macrophages.
Cellular & molecular immunologyMitochondrial dysfunction: a new target for traditional Chinese medicine in the treatment of chronic heart failure.
Chinese journal of natural medicinesAcox1 induces lipid peroxidation and metabolic shifting to promote PASMCs proliferation in hypoxia-induced pulmonary hypertension.
Free radical biology & medicinePharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.
Nature communicationsEarly-activated extracellular matrix proteins shape the metabolic and spatial dynamics of the kidney fibrotic microenvironment.
Nature metabolismMitochondrial Pyruvate Metabolism Controls Alveolar Stem Cell Fate and Inflammatory Balance.
InflammationMitochondrial complex assembly in epilepsy of primary mitochondrial disease origin.
SeizureFumarate loss destabilizes mitochondria and activates cGAS-STING in OLP.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieLoss of Splicing Homeostasis as a Hallmark of Aging.
Molecular and cellular biologyExpanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
NeurogeneticsLoss of Early Growth Response Protein 1 in the Liver Leads to Hepatic Lipid Accumulation Driven by an Imbalance Between Fatty Acid β-Oxidation and Oxidative Phosphorylation.
Gastro hep advancesDiscovery of Genes Related to Cuproptosis and Mitophagy to Improve Myocardial Infarction Diagnosis and Treatment.
Current gene therapyBeyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.
Cell death discoveryDeciphering the role of mitochondrial cytochrome C oxidase subunit 4 in cardiac health and disease.
Life sciencesA case report of combined oxidative phosphorylation deficiency 35 (COXPD35) in Palestine caused by novel compound heterozygous TRIT1 variants.
Medicineα-synuclein preformed fibrils suppress cell cycle progression and glycolytic flux in glioblastoma cells.
Experimental cell researchTranscriptomic analysis of cells following decreased mitochondrial DNA-copy number reveals compensatory mechanisms in mitochondrial DNA replication and cellular energetics.
Experimental cell researchMultilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis.
bioRxiv : the preprint server for biologyClemastine Restores Myelination Protein Expression in S16 Schwann Cells by Enhancing AMPK Activation and Reducing H2O2-Induced Oxidative Stress.
Biomolecules & therapeuticsMesenchymal Stromal Cells and Extracellular Vesicles: A Novel Therapeutic Paradigm for Mitochondrial Dysfunctions.
International journal of molecular sciencesTherapeutic Potential of Deferiprone-Resveratrol Hybrid (DFP-RVT) Against Hepatic Iron Overload in β-Thalassemia Mice: A Proteomic Analysis.
BiomoleculesMitochondrial Dysfunctions in Human Primary Coenzyme Q10 Deficiencies.
BiomoleculesThe Role of Cold-Inducible RNA-Binding Protein (CIRP) in Neurological Disorders.
Brain sciencesPotential Biological Processes Related to Brain SLC13A5 Across the Lifespan: Weighted Gene Co-Expression Network Analysis from Large Human Transcriptomic Data.
Brain sciencesBmal1 regulates thermogenic function by modulation of lipolytic and OXPHOS gene expression in male mice brown adipocytes.
EndocrinologyRole of mitochondria in neuronal function and survival in the enteric and central nervous systems.
Cellular and molecular life sciences : CMLSEngineering Mitochondrial Biogenesis in iPSC-CMs: CRISPR-Guided Approaches for Advanced Cardiomyocyte Development.
Journal of cardiovascular development and diseaseMitochondrial Resilience in Glaucoma: Targeting NAD+ Metabolism and Oxidative Stress in Retinal Ganglion Cell Degeneration with Nicotinamide Riboside and Berberine: Preliminary Clinical Evidence.
Diseases (Basel, Switzerland)TCA cycle intermediates as an adjunct strategy for human iPSC-derived cardiomyocyte maturation.
BBA advancesCD4+T cell metabolic reprogramming as therapeutic targets in neurodegenerative diseases.
Molecular brainProline-Mediated Inhibition of ATPIF1-mTOR Signaling Alleviates Radiation-Induced Macrophage Polarization and Colon Inflammation.
InflammationAMPK Deficiency Induces Corneal Epithelial Barrier Dysfunction by Modulating Energy Homeostasis.
Investigative ophthalmology & visual scienceMitochondrial abnormalities in idiopathic inflammatory myopathies.
Clinical and experimental rheumatologyUnraveling the molecular mechanisms in severe Alzheimer's disease based on transcriptomic data using next generation knowledge discovery methods.
Pakistan journal of medical sciencesHypoxia-induced LGALS8-AS1 sustains oxidative phosphorylation to drive breast cancer progression.
Biochemical and biophysical research communicationsRepair of Corneal Epithelial Defects.
Progress in molecular and subcellular biologyMachine learning-driven identification of shared and disease-specific mitochondria-related genes in COPD, NSCLC, and NSCLC with COPD.
iScienceComparative phenotypic and molecular profiling of replicative and chemically-induced senescence in articular chondrocytes.
Cell death discoveryHypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature.
Journal of pediatric endocrinology & metabolism : JPEMMitochondrial respiration and hydrogen peroxide production rate in right atrial tissues from obese diabetic patients.
Experimental physiologyVariants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability.
NPJ genomic medicineErgothioneine rescues obesity-induced testicular dysfunction via dual restoration of steroidogenesis and mitochondrial redox homeostasis.
Redox biologyDietary chromium picolinate-promoted oxidative phosphorylation may be a potential mean to improve hypoxia tolerance of juvenile grass carp (Ctenopharyngodon idella).
Animal nutrition (Zhongguo xu mu shou yi xue hui)Unraveling Network Pharmacology-Based Therapeutics of Anthranilate Sulfonamides via Sirtuins/FOXO3a Cascade in Alzheimer's Disease.
Journal of neurochemistryRole of CR6-Interacting Factor 1 (Crif1) in Cardiac Mitochondrial Structure and Stress-Induced Functional Decline.
Korean circulation journalHarnessing Anthocyanins to Mitigate Inflammation, Dysbiosis, and Aging in the Gastrointestinal Tract.
ACS pharmacology & translational scienceSenegenin attenuates LPS-induced neuroinflammation and microglial cell death via Akt phosphorylation and suppression of cGAS-STING-NLRP3 signaling: Network pharmacology and experimental validation.
Journal of ethnopharmacologyTubular EZH2 promotes acute kidney injury by Inhibiting SDHC-mediated mitochondrial function.
Free radical biology & medicineMitochondrial dysfunction and AMPK-associated metabolic reprogramming in zebrafish exposed to fluorinated liquid crystal monomers.
Ecotoxicology and environmental safetyThe succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.
iScienceMitochondrial Metabolism in Neutrophils: Emerging Roles in Inflammatory Skin Diseases.
The British journal of dermatologyTGFβ-activated PDHB promotes mitochondrial pyruvate metabolism and contributes to human endoderm differentiation via ATP-dependent BRG1.
Nature communicationsEnhanced CHI3L1 promotes macrophage activation in persistent inflammatory events of ulcerative interstitial cystitis.
Frontiers in immunologyA novel tRNASer(AGY) 12244G > a variant impairs mitochondrial function and presents with classical MELAS phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyHydrogel-based mitochondrial therapies: A new frontier in disease treatment.
BiomaterialsBenefits of oral nitrite supplementation on mitochondrial respiration and physical function in older adults.
The journals of gerontology. Series A, Biological sciences and medical sciencesFASN-mediated metabolic reprogramming drives CD4+ T cell hyperactivation in Sjögren's syndrome via fatty acid oxidation-dependent oxidative phosphorylation.
Arthritis research & therapyImmunometabolism Reframes Alzheimer's Disease: From Systemic Dysmetabolism to Glial Rewiring.
Cellular and molecular neurobiologyMechanisms and disease relevance of mitochondrial translation in humans.
Nature reviews. Molecular cell biologySpatiotemporal transcriptomic profiling reveals upregulation of glycolysis pathway genes before overt tauopathy in the PS19 mouse model.
Experimental & molecular medicineProgression of peripheral blood mononuclear cell mitochondrial function during the early phase of sepsis in intensive care unit patients.
Scientific reportsSTARD10 regulates human pancreatic β cell differentiation and triglyceride metabolism.
Stem cell reportsPost‑translational modifications in diabetic kidney disease (Review).
International journal of molecular medicineDivergent mitochondrial and metabolic adaptations shape selective vulnerability in ALS.
bioRxiv : the preprint server for biologyMolecular and Neuroimaging Correlates of Bipolar Disorder: Linking Inflammation, Mitochondria, and Brain Circuitry.
International journal of molecular sciencesColonic spatial single-cell proteomics and murine models link mitochondrial dysfunction to dimeric IgA-secreting plasma cell deficiency in Crohn's disease.
Nature communicationsGinsenoside Rh4 activates AMPK and alleviates NFκB-mediated inflammation in hyperlipidemic hepatopathy.
Free radical biology & medicineIntegrative metabolomics and network pharmacology reveal the therapeutic mechanisms of Inonotus hispidus (Bull.) P. Karst. extract against primary dysmenorrhea.
The Journal of steroid biochemistry and molecular biologyROMO1 is involved in airway mucus hypersecretion in COPD through the mitochondrial ROS-STAT6 pathway.
Respiratory researchLactiplantibacillus plantarum GUANKE ameliorates influenza a virus-induced inflammation and lung barrier dysfunction through enhancing mitophagy and improving oxidative phosphorylation.
Cellular and molecular life sciences : CMLSOptic neuropathy arising from the synergy between YARS2 and mitochondrial COX1 mutations.
Journal of genetics and genomics = Yi chuan xue baoSrc-mediated PHB2 phosphorylation disrupts mitochondrial cristae through cardiolipin dissociation in hepatocellular carcinoma.
Redox biologyDistinct roles of PINK1 autophosphorylation in neonatal hypoxia with or without convulsions.
International immunopharmacologyMTFP1 drives pancreatic cancer liver metastatic colonisation by regulating mitochondrial metabolism reprogramming.
GutPolymer of methyl malonic acid suppress inflammation by downregulating IL-2 through ROS overproduction.
bioRxiv : the preprint server for biologyHonokiol protects against acute pancreatitis by activating SIRT3 to restore mitochondrial oxidative phosphorylation and alleviate hyperacetylation.
Journal of integrative medicineHydroxychloroquine alleviates renal fibrosis by modulating dendritic cells glycolipid metabolism and its crosstalk with renal tubular epithelial cells.
European journal of pharmacologyD-ribose-induced cytotoxicity in K562 cells: RBKS-dependent disruption of copper homeostasis and mitochondrial function.
Free radical biology & medicinePaenibacillus polymyxa K17 Controls Leaf Spot of Tea Plant by Impairing Fungal Cellular Structure and Energy Metabolism.
Journal of agricultural and food chemistryScreening strategy using a filamentous fungus model to repurpose drugs for mitochondrial complex I deficiencies.
Life sciencesTrans-activator of transcription-pre-B-cell leukemia transcription factor 1 alleviates Alzheimer's disease by reducing neuronal insulin resistance and restoring energy homeostasis.
Neural regeneration researchProteomic profiles in inclusion body myositis and polymyositis with mitochondrial pathology.
Acta neuropathologica communicationsMitochondrial DNA mutations and intercellular mitochondrial transfer in cancer: mechanisms, biological effects, and clinical potential.
Biomarker researchCardiac mitochondrial proteome of lean, healthy Ossabaw minipigs with predisposition to metabolic syndrome versus that of Göttingen minipigs.
American journal of physiology. Heart and circulatory physiologyProteomics landscape of early T-cell precursor acute lymphoblastic leukemia reveals deficient oxidative phosphorylation signatures.
Cell reports. MedicineThe Ketogenic Diet in the Neonatal Intensive Care Setting: The Case of a Preterm Newborn With Mitochondrial DNA Depletion Syndrome Type 13 (MTDPS13).
Case reports in geneticsTargeting TFAM K76 acetylation attenuates mitochondrial dysfunction and kidney injury in diabetic kidney disease.
Cardiovascular diabetologyChronic NH4Cl loading improves glucose tolerance without modifying insulin sensitivity in mice.
Scientific reportsPsoralidin, a main compound in Psoraleae Fructus, induces hepatotoxicity by impeding lipid oxidative catabolism and aggravating lipid accumulation in mice.
Chinese medicineEffects of exercise training on oxidative phosphorylation-related genes in a diabetic heart via microarray analysis.
BMC cardiovascular disordersMapping the causal chain from genetic risk variants to lipid dysmetabolism in Parkinson's disease.
Brain : a journal of neurologyNeuropeptide S Protects Dopaminergic Neurons in a Paraquat-Induced Parkinson's Model Using SH-SY5Y Cells.
Molecular neurobiologyDownregulated ECHS1 and HADH-mediated fatty acid β-oxidation contributes to mitochondrial dysfunction in salivary glands of Sjögren's syndrome.
Journal of translational autoimmunityMechanisms of microRNA trafficking to mitochondria in the heart.
Current opinion in physiologyLiraglutide alleviates sepsis-associated encephalopathy via attenuating neuronal damage, glial cell activation and mitochondrial dysfunction in a mouse model of sepsis.
European journal of medical researchJNK1 mediates serine phosphorylation of STAT3 in response to fatty acids released by lipolysis.
Journal of lipid researchClinical and biochemical footprints of primary mitochondrial disorders: proposed nosology.
Molecular genetics and metabolismPhthalate Metabolite, Mono(2-Ethyl-5-Hydroxyhexyl) Phthalate (MEHHP), Promotes Uterine-Fibroid-Associated Phenotypes in Myometrial Stem Cell-Derived 3D Organoids.
Environmental toxicologyDNA methylation-mediated alterations in Copper(I/II) redox equilibrium underlie lead-induced neurotoxicity.
Environmental pollution (Barking, Essex : 1987)The possible mechanism of L-arginine improved intestinal barrier health in grass carp (Ctenopharyngodon idella): via suppressing apoptosis and enhancing mitochondria-endoplasmic reticulum crosstalk.
Free radical biology & medicineA novel metabolic gene signature induced by Di-(2-ethylhexyl) phthalate and Mono-(2-ethylhexyl) phthalate exposure predicts prognosis in breast cancer: An integrative bioinformatics and experimental study.
Ecotoxicology and environmental safetyMulti-Omics Elucidation of Edulinine's Intervention Mechanism in Hypertensive Rats.
Current issues in molecular biologySDHA Deficiency in Hepatocellular Carcinoma Promotes Tumor Progression through Succinate-Induced M2 Macrophage Polarization.
Oncology researchSingle-Cell RNA Sequencing and Network Pharmacology Reveal the Potential Role of Oxidative Phosphorylation Inactivation in Diagnosing and Treating Chronic Tendon Injuries.
The journal of gene medicineThe aggregate proteome of Caenorhabditis elegans mitochondria implicates shared mechanisms of aging and Alzheimer's disease.
Frontiers in aging neuroscienceVacuole and mitochondria patch (vCLAMP) protein Mcp1 reduces the pathogenesis of Candida albicans by impeding the function of Cap1-mediated oxidative stress response.
BMC microbiologySinomenine inhibits oxidative stress to attenuate Alzheimer's disease pathology via α7 nicotinic acetylcholine receptor.
Phytomedicine : international journal of phytotherapy and phytopharmacologyEffects of Tributyltin Chloride on Human Neuronal Differentiation and Mice Brain Development.
Environmental toxicologyCystinosis and Cellular Energy Failure: Mitochondria at the Crossroads.
International journal of molecular sciencesMitochondrial DNA Instability and Neuroinflammation: Connecting the Dots Between Base Excision Repair and Neurodegenerative Disease.
GenesThe LncRNA11-hnRNPA1 functional axis maintains adipose tissue metabolic homeostasis by promoting mitochondrial respiration and lipid utilization.
International journal of biological macromoleculesIn vitro investigation of miR-206-3p-loaded extracellular vesicles as modulators of Aβ-induced neurodegeneration.
Biochemical and biophysical research communicationsEx Vivo Human Colonic Explants Identify Metabolic Alterations and Cytokine Dysregulation in Ulcerative Colitis: A Pilot Study.
Digestive diseases and sciencesTargeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases.
Pharmacological reports : PRSensitivity of primary mitochondrial disease fibroblasts to ferroptosis: The role of intracellular iron.
MitochondrionEpigenetic alterations of AKT1 orchestrate a metabolic reprogramming in advanced lipedema: translational insights from an integrated multi-omics study.
Journal of translational medicineDeficient mitochondrial tRNA modifications arising from TRMU mutation led to the liver-specific failure.
The Journal of biological chemistryCAR-T cells with the CD38-CD73-Tim-3-HLA-DR+ phenotype predict the efficacy of tisagenlecleucel as a treatment for B cell precursor ALL.
Cell reports. MedicineAmine-modified polystyrene particles induce surface chemistry-driven immunotoxicity in microglia: Protective effects of trolox.
Ecotoxicology and environmental safetyMPC1 deficiency promotes melanoma progression via Wnt/β-catenin signaling.
Biochemical and biophysical research communicationsGlucose and Oxygen Metabolism Coordinate Human Cortical Developmental Decisions.
bioRxiv : the preprint server for biologyNDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.
Frontiers in immunologyImpact of Toll/Interleukin-1 Receptor Domain Protein C on Mesenchymal Stem Cells Mitochondrial Protein Expression: A Proteomic Study.
Current molecular medicineThe Interplay between PKC and ELAV4 in the CNS: An Emerging Therapeutic Axis for Dementia Management.
CNS & neurological disorders drug targetsItaconate and its derivatives ameliorate autoimmunity by suppressing Th17 cells via regulating mitophagy.
Cell communication and signaling : CCSShikonin attenuates diabetic Parkinsonian neuronal injury by facilitating p53/SLC25A28-mediated iron shuttling.
Biochemical pharmacologyIsocucurbitacin B targets STAT3 to induce ferroptosis and promote anti-PD1 immunotherapy responses in breast cancer.
International journal of surgery (London, England)Nuclear MBL-1 modulates mitochondrial morphology through carnitine palmitoyltransferase in Caenorhabditis elegans with toxic trinucleotide repeats.
Proceedings of the National Academy of Sciences of the United States of AmericaGlucose-6-phosphate dehydrogenase deficiency is associated with improved survival in patients with acute myeloid leukemia treated with venetoclax and azacitidine.
CancerUnraveling the role of mitochondrial dysfunction in diabetic kidney disease: insights and interventions.
Frontiers in pharmacologyMitigating Dexamethasone-Induced Muscle Wasting and Mitochondrial Impairment in Mice on a High-Fat and High-Sucrose Diet With Peanut Sprout Extract.
Food science & nutritionThe herbal compound miltirone from Salvia miltiorrhiza targets DJ-1 to induce mitophagic dysfunction and ROS-dependent hippo activation in gastric cancer.
Phytomedicine : international journal of phytotherapy and phytopharmacologyA New Combination Therapy Utilizing Mitochondria-Targeting Small-Molecule Ligands and Clinical Inhibitors against Melanoma.
ACS chemical biologyMultiomics Reveals Mitochondrial and Metabolic Perturbations Underlying Cyclotriphosphazene-Induced Lung Injury.
Environment & health (Washington, D.C.)Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis.
Orphanet journal of rare diseasesA novel extracellular flux assay workflow uncovers impaired sciatic nerve mitochondrial respiration in diabetic db/db mice.
Cell communication and signaling : CCSCircRNA HIPK2-mediated metabolic reprogramming restores mitochondrial homeostasis in chondrocytes through the miR-206/Sirt3 signaling axis attenuating osteoarthritis-induced nociception.
InflammopharmacologySARS-CoV-2 altered mitochondrial DNA methylation in Indian COVID-19 patients.
Scientific reportsTargeting metabolic vulnerabilities: REV-ERB agonist SR9009 potentiates sorafenib efficacy in liver cancer.
Cell death discoveryThe Interplay Between Nurr1 and Mitochondrial Biogenesis: Implications for Neurodegenerative Therapy.
Molecular neurobiologyProkaryotic organelle mitochondria drive tumorigenesis: "the original sin".
Frontiers in oncologyDeficiency of Microglial-Derived Spp1 Exacerbates Age-Related Memory Decline by Impairing Mitochondrial Complex I Function.
Aging cellTriclosan exacerbates post-myocardial infarction injury via Nur77 ubiquitination: Linking NTRK2/PGC-1α-mediated mitochondrial dysfunction to senescence and ferroptosis.
Redox biologySkeletal muscle transcriptional dysregulation of genes involved in senescence is associated with prognosis in severe heart failure.
Communications medicineGenetic and neuroanatomical correlates of bipolar disorder in high-risk youth.
BMJ mental healthThe myocardial ischemic cascade network and multi-target synergistic interventions: From molecular mechanisms to therapeutic innovations.
Biochemical pharmacologyUQCRC1 deficiency impairs mitophagy via PINK1-dependent mechanisms in Parkinson's disease.
NPJ Parkinson's diseaseBrown adipocyte-derived SAA3-CPT1A axis regulates diet-induced thermogenesis and protects against obesity.
The Journal of nutritional biochemistryA transcriptomic and proteomic map of primary human cell types.
Nucleic acids researchSex-dependent differences in bioenergetics of young mouse brain microvasculature: implications for oxygen-glucose deprivation and reoxygenation injury.
American journal of physiology. Heart and circulatory physiologyMitochondrial Disorder in a Child With Brainstem Lesions Mimicking Thiamine Deficiency.
CureusPurinosomes and mitochondria: Dynamic interactomes at the crossroads of metabolism, cell structure, and disease.
Pharmacological researchStructural basis for late maturation steps of mitochondrial respiratory chain complex IV within the human respirasome.
Nature communicationsOX-LDL causes vascular endothelial injury by interfering with the CREB1-MDH1B-malate axis.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença da fosforilação oxidativa mitocondrial e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É um distúrbio multissistêmico com manifestações clínicas variáveis decorrente de falhas no sistema mitocondrial responsável por produzir energia celular. A condição também é conhecida e referida na literatura biomédica pela sigla OXPHOS.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Doença da fosforilação oxidativa mitocondrial. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-da-fosforilacao-oxidativa-mitocondrial
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença da fosforilação oxidativa mitocondrial
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
