Raras
Buscar doenças, sintomas, genes...
Doença da importação proteica mitocondrial
ORPHA:254834CID-11 · 5C53.31DOENÇA RARA

A autofagia é um processo catabólico celular que dá origem à degradação de componentes da própria célula utilizando os lisossomas. É um processo estreitamente regulado que desempenha uma função normal no crescimento celular, diferenciação, e na homeostase, e ajuda a manter um equilíbrio entre a síntese, a degradação e o reciclado dos produtos celulares. Consiste num dos principais mecanismos por meio dos quais uma célula em estado de desnutrição redistribui os nutrientes dos processos menos necessários aos essenciais.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença rara que afeta a função mitocondrial devido a defeitos na importação de proteínas essenciais. Causa disfunção energética celular e pode manifestar-se com sintomas neurológicos, musculares e de desenvolvimento.

Publicações científicas
748 artigos
Último publicado: 2026 Apr 13
🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3
Total histórico748PubMed
Últimos 10 anos200publicações
Pico202482 papers
Linha do tempo
2023Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença da importação proteica mitocondrial

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

The genetic architecture of postoperative delirium after major surgery and its relationship with nonpostoperative neurocognitive conditions: A genome-wide association study.

PLoS medicine2026 Mar

Postoperative delirium is the most common postoperative complication in older individuals. Genome-wide association studies (GWAS) can provide insights into how genetic factors influence postoperative risk. We examined the genetic architecture of postoperative delirium after major surgery and its relationship with related cognitive conditions (delirium of any type and Alzheimer's disease, including the APOE ε4 allele). A case-control GWAS was performed in the UK Biobank to identify genetic variants associated with postoperative delirium, adjusted for age, sex, genetic chip, and the first 10 principal components. These results were then used in genetic correlation and polygenic risk score analyses to investigate shared genetic risk between postoperative delirium and a) delirium of all causes, and b) Alzheimer's disease. The GWAS (1,016 cases, 139,148 controls) identified seven Single Nucleotide Polymorphisms (SNPs) that mapped to four genes (APOE, TOMM40, APOC1, and PVRL2); p < 5 x 10-8. Five SNPs remained significant after excluding pre-existing dementia, and two after excluding subsequent dementia. The lead SNP was rs429358, a missense variant of APOE. Genetic correlation and polygenic risk score analyses revealed evidence of shared genetic architecture and risk between postoperative delirium and Alzheimer's disease (rho 0.68, 95% CI [0.46, 0.81]; p < 0.001). After adjustment for age and sex, the APOE ε4 isoform had a dose-response effect on risk (odds ratios for one and two copies: 1.75, 95% CI [1.53, 2.0], and 4.19, 95% CI [3.25, 5.41], respectively; p < 0.001). The main limitations of the study include the reliance upon clinical coding for outcome definition and limited statistical power to detect small or modest genetic effects. We identified genetic variants associated with increased risk of postoperative delirium. We also found evidence of shared genetic liability with Alzheimer's disease via APOE, complementing recent large-scale studies in all-cause delirium. If validated, the findings have potential clinical applications, including preoperative risk stratification and early identification of pre-clinical Alzheimer's disease risk.

#2

ALDH2 activation protects against mutant TOMM40-mediated mitochondrial dysfunction and neurodegeneration in Alzheimer's disease.

Life sciences2026 Apr 15

TOMM40 (translocase of outer mitochondrial membrane 40) is crucial for mitochondrial protein import. Mutations in TOMM40 increase the risk of Alzheimer's disease (AD) and trigger neuroinflammation. ALDH2 (aldehyde dehydrogenase 2) has neuroprotective effects, but the therapeutic role of ALDH2 activation in targeting neuroinflammation-induced AD remains unclear. In this study, it was hypothesized that TOMM40 mutations cause BV2 microglial activation and neuronal loss by impairing mitochondrial functions and that ALDH2 activation by small-molecule activator Alda-1 exerts anti-neuroinflammatory effect on HT22 hippocampal neurons. Expression of mutant TOMM40 (F113L or F131L) induced BV2 microglial activation, reduced ALDH2 activity, and impaired mitochondrial function in BV2 microglia. ALDH2 activation by Alad-1 attenuated mutant TOMM40-induced microglial activation, mitochondrial dysfunction, ROS production, and lipid droplet accumulation. Alda-1 also suppressed mutant TOMM40-induced ROS/NF-κB/NLRP3 inflammasome axis and reduced the secretion of IL-1β, IL-6, and TNF-α. Conditioned medium from mutant TOMM40-expressing microglia induced apoptosis, neurite degeneration, and neuronal death in HT22 hippocampal neurons, which were alleviated by Alda-1 treatment. These findings suggest that ALDH2 activation prevents neuroinflammation-induced hippocampal neuronal death by downregulating NLRP3 inflammasome pathway, reducing lipid droplet accumulation, and enhancing mitochondrial function and neurite outgrowth.

#3

Loss of Sugen Kinase 495 in macrophages alleviates chronic colitis by improving mitochondrial stress.

Biochimica et biophysica acta. Molecular cell research2026 Jan

Inflammatory bowel disease (IBD), highlighted by chronic intestinal inflammation, is an escalating global health concern. The pathogenesis of IBD is not fully understood, with DSS-induced chronic colitis in mice serving as a prevalent model, characterized by an increase in Ly6Chigh macrophages-a signature of IBD. Sugen Kinase 495 (Sgk495), also known as serine/threonine kinase 40 (STK40), is known to influence cell differentiation, has an obscure role in mitochondrial in macrophage and its molecular mechanisms. Our research demonstrates that Sgk495 exacerbates chronic colitis in mice by disrupting colon structure and function and enhancing colonic pathology. The absence of Sgk495 in macrophage cells resulted in a reduction in the proportion of Ly6Chigh macrophage. Mechanistically, Sgk495 silencing also improved mitochondrial stress by upregulated PINK1, Parkin, TOMM20 and DRP1, while reducing FOXO3a phosphorylation. Knockout of Sgk495 downregulates FOXO3a phosphorylation and improves mitochondrial stress, inhibits Ly6Chigh macrophage polarization, and alleviates chronic colonic inflammation. Sgk495 may serve as a new potential therapeutic target for IBD.

#4

Synuclein and Mitochondrial Dysfunction: Regulating the Protein Import Complex toward PD Treatment?

ACS chemical neuroscience2026 Jan 07

Parkinson's disease (PD) is a chronic, progressive neurodegenerative disorder characterized by severe motor symptoms. While the degeneration of dopaminergic neurons in the substantia nigra plays a central role, other neurotransmitter systems also contribute to PD symptoms. α-Synuclein (αSyn), normally expressed in neurons to support synaptic function and neurotransmitter release, becomes pathologically accumulated in PD, despite not being upregulated under physiological conditions. Intracellular aggregation of αSyn into Lewy bodies is a hallmark of synucleinopathies. A vital facet of both the onset and progression of PD involves mitochondrial dysfunction, which links αSyn misimport into mitochondria with neuronal death. The interaction of αSyn with mitochondrial membranes has been identified, yet the complex stepwise biological mechanisms of αSyn misimport into the mitochondrial compartments, followed by its aggregation, culminating in mitochondria-mediated apoptosis, remain unknown. The Translocase of the Outer Mitochondrial Membrane (TOM) complex, vital for unidirectional import of >1300 mitochondrial proteins from the cytosol, can additionally misimport αSyn into mitochondria. This TOM-αSyn interplay can alter calcium homeostasis, reduce ATP biogenesis, elevate reactive oxygen species generation, and compromise mitochondrial dynamics, resulting in mitochondrial dysfunction and triggering cell death in dopaminergic neurons. Detailed analyses of TOM complex function, interactome, and TOM-αSyn association could lead to treatment approaches that restore mitochondrial homeostasis by mitigating the effects of αSyn pathology in neurodegenerative conditions. This review details the most recent findings on independent regulators of αSyn and the TOM complex and discusses TOM-αSyn interaction mechanisms and their outcomes on mitochondrial dynamics toward promoting development of therapeutics for neurodegeneration.

#5

A direct role for a mitochondrial targeting sequence in signalling stress.

Nature2026 Jan

Mitochondrial protein import is required for maintaining organellar function1. Perturbations in this process are associated with various physiological and disease conditions2. Several stress responses, including the mitochondrial compromised protein import response (mitoCPR), combat damage caused by mitochondrial protein import defects2. However, how this defect is sensed remains largely unknown. Here we reveal that the conserved mitochondrial Hsp70 co-chaperone, Mge1, acts as a stress messenger in budding yeast. During mitochondrial stress, unimported Mge1 entered the nucleus and triggered the transcription of mitoCPR target genes. This was mediated by the interaction of Mge1 with the transcription factor Pdr3 on DNA regulatory elements. The mitochondrial targeting sequence of Mge1 was both sufficient and essential for mitoCPR induction, demonstrating that in addition to their roles in mitochondrial protein import, targeting sequences can also function as signalling molecules. As protein import defects are a common consequence of various types of mitochondrial damage3,4, these findings suggest a novel function for the targeting sequence of Mge1 as an indicator of mitochondrial health.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Stress-induced OMA1-mediated cleavage of AIFM1 suppresses cell growth by controlling mitochondrial OXPHOS activity.

The EMBO journal
2026

Disruption of Mitophagy-Related Gene Expression in Gestational Diabetes Mellitus: A Transcriptomic and Machine Learning Approach.

Journal of diabetes research
2026

Diverse mitochondrial stresses activate PINK1-PRKN/parkin mitophagy by a unified mechanism.

Autophagy
2026

Mitochondrial Precursor Overaccumulation Stress.

Annual review of biochemistry
2026

Mitochondrial dysfunction and programmed cell death in Alzheimer's disease: A retrospective bioinformatics study.

Medicine
2026

Thiamine (Vitamin B1) metabolism in schistosomes.

Biochimie
2026

Amyloid-β and Mitochondrial Membranes: A Missing Link in Alzheimer's Pathogenesis.

Molecular neurobiology
2026

LYPLAL1 Rare Loss-of-Function Variants in Humans and Deletion in Human Hepatoma Cells Protect Against MASLD.

Journal of lipid research
2026

The genetic architecture of postoperative delirium after major surgery and its relationship with nonpostoperative neurocognitive conditions: A genome-wide association study.

PLoS medicine
2026

Amyloid beta 42 disrupts cardiac function in Alzheimer's disease mice via SLC31A1 upregulation-mediated cuproptosis.

Basic research in cardiology
2026

Mitofusin MFN2 acts as a molecular sensor preventing protein aggregation and mitophagy, with a protective effect against apoptosis in Charcot-Marie-Tooth type 2A disease.

Autophagy reports
2026

ALDH2 activation protects against mutant TOMM40-mediated mitochondrial dysfunction and neurodegeneration in Alzheimer's disease.

Life sciences
2026

Identification of Mitophagy-Related Genes With Diagnostic Value in Atherosclerosis Using Bioinformatics Analysis and Experiment Validation.

Chemical biology &amp; drug design
2026

A dynamic displacement mechanism drives protein import into mitochondria.

bioRxiv : the preprint server for biology
2026

ZFT is the major iron and zinc transporter in Toxoplasma gondii.

eLife
2026

The association of Alzheimer's disease-related SNPs with mild cognitive impairment susceptibility in the Chinese population.

Scientific reports
2026

Immunohistochemical Analysis of Tom20 in Choroid Plexus Epithelial Cells From Elderly Brains With Neurodegenerative Diseases.

Neuropathology : official journal of the Japanese Society of Neuropathology
2026

TOM70-Mitochondrial Pathway Reduction Mediates DEHP-Induced Neuroinflammation in Mice.

Journal of agricultural and food chemistry
2025

Interplay Between 3D Chromatin Architecture and Gene Regulation at the APOE Locus Contributes to Alzheimer's Disease Risk.

International journal of molecular sciences
2026

Loss of Sugen Kinase 495 in macrophages alleviates chronic colitis by improving mitochondrial stress.

Biochimica et biophysica acta. Molecular cell research
2025

The Diagnostic Reliability of BIN1 and TOMM40 Genotyping in Assessing Dementia Risk.

Genes
2025

Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.

The American journal of case reports
2025

Cellular proteostasis during mitochondrial protein import clogging requires the mitochondrial F-box protein 1 and DJ-1 homolog HSP31 in Saccharomyces cerevisiae.

Genetics
2026

Synuclein and Mitochondrial Dysfunction: Regulating the Protein Import Complex toward PD Treatment?

ACS chemical neuroscience
2025

The fate of pyruvate dictates cell growth by modulating cellular redox potential.

eLife
2025

Modulation of adipose inflammation and mitochondrial pathways by a yeast-derived β-1,3/1,6-glucan and vitamin complex: an open-label pilot study of Lalmin® immune pro in older overweight adults.

Frontiers in nutrition
2026

A direct role for a mitochondrial targeting sequence in signalling stress.

Nature
2026

Stress at the gates: Mitochondrial import dysfunctions, response pathways, and therapeutic potential.

Mitochondrion
2026

Integrated multi-omics and machine learning elucidate the pathogenic role of mitophagy in osteoarthritis and identify novel therapeutic strategies.

International immunopharmacology
2025

N-terminal α-amino SUMOylation promotes phosphorylation-independent cofilin-1 translocation to the mitochondrial matrix and induces apoptosis.

Nature communications
2025

Targeting TOMM40 and TOMM22 to Rescue Statin-Impaired Mitochondrial Function, Dynamics, and Mitophagy in Skeletal Myotubes.

International journal of molecular sciences
2025

Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence.

Genes
2025

The Mitochondrial F-box protein 1 and DJ-1 homolog HSP31 support cellular proteostasis during mitochondrial protein import clogging.

bioRxiv : the preprint server for biology
2026

Mitochondrial protein TOMM7 alleviates diabetic kidney disease by regulating mitophagy via intracellular redistribution of phospholipase PLA2G6.

Kidney international
2026

A unified mechanism for mitochondrial damage sensing in PINK1-Parkin-mediated mitophagy.

The EMBO journal
2025

The dynamic lateral gate of the mitochondrial β-barrel biogenesis machinery is blocked by darobactin A.

Nature communications
2026

Beyond the nucleus: the ATM-CHEK2 axis senses mtROS to orchestrate mitophagy.

Autophagy
2026

Mitochondrial Transfer Rescues Respiration to Support De Novo Pyrimidine Biosynthesis and Tumor Progression.

Cancer research
2025

Baicalin inhibits infectious bronchitis virus replication via MAVS-dependent interferon-β upregulation and mitochondrial function preservation.

Scientific reports
2025

PEDV NSP8 inhibits IFN-III production induced by MAVS through downregulation of PEX13.

mBio
2025

Leucine inhibits degradation of outer mitochondrial membrane proteins to adapt mitochondrial respiration.

Nature cell biology
2025

Substrate recognition by the human mitochondrial processing peptidase and its processing of PINK1.

The Journal of biological chemistry
2025

Jiao-tai-wan and its component coptisine attenuate PCOS by regulating mitochondrial cholesterol import through suppression of SIRT1 ubiquitination.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Tuning the Hsp70 chaperone cycle: emerging roles of GrpE-like nucleotide exchange factors in proteostasis and organelle function.

Protein &amp; cell
2026

TbTim20 facilitates protein import at a low membrane potential in trypanosomes lacking the mitochondrial genome.

The FEBS journal
2026

From Biogenesis to Breakdown: How Protein Biogenesis and Quality Control Failures Drive Mitochondrial Disease.

Molecular and cellular biology
2025

Down-regulation of HSPA9 reduces tyrosine hydroxylase-positive neurons in mouse substantia nigra and induces Parkinson's disease-like motor impairments.

Animal cells and systems
2025

Elevated co-expression of TIMM17A and NMT1 is associated with poor survival in non-small cell lung cancer.

Scientific reports
2025

DDHD2 provides a flux of saturated fatty acids for neuronal energy and function.

Nature metabolism
2026

Tom70 prevents fibrotic activation of aortic valve interstitial cells via EPA-activated Autophagic flux.

Biochimica et biophysica acta. Molecular basis of disease
2025

Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease: ATXN2, ATXN3, CACNA1A, PRNP, TBP, C9ORF72, TOMM40, APOE, and POLG-A Swedish Perspective.

International journal of molecular sciences
2025

Mitochondria-Localized Nestin Protects Mesenchymal Stem Cells from Senescence by Maintaining Cristae Structure and Function.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Toxic Tango in Parkinson's Disease: A dance between αSyn and iron import, export and speciation.

Neurochemistry international
2025

Mtx2 requirement for craniofacial morphogenesis with implications for mandibuloacral dysplasia.

Biochemical and biophysical research communications
2025

Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective.

Human psychopharmacology
2025

TIMM8A-TIMM13 Complex Exerts Oncogenic Functions in Lung Cancer.

Oncology research
2025

Mitochondrial protein import stress augments α-synuclein aggregation and neural damage independent of bioenergetics.

Research square
2025

A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings.

Genes
2025

Systemic Neurodegeneration and Brain Aging: Multi-Omics Disintegration, Proteostatic Collapse, and Network Failure Across the CNS.

Biomedicines
2025

Jolkinolide B Activates Mitophagy to Exhibit Antipancreatic Cancer Activity and Alleviate Cognitive Deficits in Alzheimer's Disease.

Molecular &amp; cellular proteomics : MCP
2025

Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease.

Biochemical Society transactions
2025

Epigenetic regulation of the respiratory chain by a mitochondrial distress-related redox signal.

Frontiers in cell and developmental biology
2025

Unraveling the power of TOMM40: Driving PHB1-mediated mtDNA release and mitophagy to fuel breast cancer progression.

Biochimica et biophysica acta. General subjects
2025

ROS-dependent localization of glycolytic enzymes to mitochondria.

Redox biology
2025

Genotyping TOMM40'523 poly-T polymorphisms using whole-genome sequencing.

HGG advances
2025

SENP6 Maintains Mitochondrial Homeostasis by Regulating Mitochondrial Protein Import Through deSUMOylation of TOM40.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

SLC39A13 Regulates Heart Function via Mitochondrial Iron Homeostasis Maintenance.

Circulation research
2025

AHSA1/Hsp90α Complex Facilitates Microglial Mitophagy by Targeting TOMM70 in Parkinson Disease.

The American journal of pathology
2025

Stressful situations: Molecular insights on mitochondrial quality control pathways.

The Journal of biological chemistry
2025

Organic cation transporter 3 on neuronal mitochondria mediates MPP+-induced mitochondrial dysfunction and neurotoxicity in a TIMM22-dependent manner.

BMC biology
2025

MitoRUSH as a tool to study the efficiency of mitochondrial import in complex I-deficient cells.

Journal of cell science
2026

SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.

Clinical genetics
2025

TIMM8B promotes oxidative phosphorylation and glycolysis by inhibiting the mtROS/ASK1/JNK signaling pathway in ovarian cancer.

Biology direct
2025

A novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.

Orphanet journal of rare diseases
2025

Mitochondrial protein nmd regulates lipophagy and general autophagy during development.

Autophagy
2025

Endothelial soluble epoxide hydrolase links polyunsaturated fatty acid metabolism to oxidative stress and atherosclerosis progression.

Redox biology
2025

Integrative Proteome and Transcriptome Analyses Reveal the Metabolic Disturbance of the Articular Cartilage in Kashin-Beck Disease, an Endemic Arthritis.

International journal of molecular sciences
2025

Rescue of the First Mitochondrial Membrane Carrier, the mPiC, by TAT-Mediated Protein Replacement Treatment.

International journal of molecular sciences
2025

Sex-specific loss of mitochondrial membrane integrity in the auditory brainstem of a mouse model of Fragile X Syndrome.

Open biology
2025

Quality control of un-imported mitochondrial proteins at a glance.

Journal of cell science
2025

Physical Resilience May Offset Mortality Risks Associated With Genetic Predisposition to Shorter Survival: A Population-based Cohort Study.

The journals of gerontology. Series A, Biological sciences and medical sciences
2025

Impact of pathogenic mutations on the refolding ability and stability of human mitochondrial Phenylalanyl-tRNA synthetase.

Archives of biochemistry and biophysics
2025

Mitochondrial quality control and stress signaling pathways in the pathophysiology of cardio-renal diseases.

Mitochondrion
2025

USP30 Aggravating the Malignant Progression of Breast Cancer and Its Resistance to Tamoxifen by Inhibiting the Ubiquitination of TOMM40.

Journal of biochemical and molecular toxicology
2025

SARS-CoV-2 Membrane Protein Induces MARCHF1/GPX4-Mediated Ferroptosis by Promoting Lipid Accumulation.

Journal of medical virology
2025

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders.

Molecular genetics and metabolism
2025

Structure of human PINK1 at a mitochondrial TOM-VDAC array.

Science (New York, N.Y.)
2025

CHCHD2 rescues the mitochondrial dysfunction in iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome.

Cell death &amp; disease
2025

Novel subcellular regulatory mechanisms of protein homeostasis and its implications in amyotrophic lateral sclerosis.

Biochemical and biophysical research communications
2025

A mitochondrial outer membrane protein TOMM20 maintains protein stability of androgen receptor and regulates AR transcriptional activity in prostate cancer cells.

Oncogene
2025

The role of l-serine and l-threonine in the energy metabolism and nutritional stress response of Trypanosoma cruzi.

mSphere
2025

Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.

Human genomics
2025

A long-lived pool of PINK1 imparts a molecular memory of depolarization-induced activity.

Science advances
2025

Structural insights into human PNPase in health and disease.

Nucleic acids research
2025

TOMM20 as a driver of cancer aggressiveness via oxidative phosphorylation, maintenance of a reduced state, and resistance to apoptosis.

Molecular oncology
2025

Mitofusin 2 displays fusion-independent roles in proteostasis surveillance.

Nature communications
2025

Development and validation of a sensitive sandwich ELISA against human PINK1.

Autophagy
2025

MIA40 circumvents the folding constraints imposed by TRIAP1 function.

The Journal of biological chemistry
2025

Modelling Peroxisomal Disorders in Zebrafish.

Cells
2025

Novel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.

Neuromuscular disorders : NMD
2025

TREM1 interferes with macrophage mitophagy via the E2F1-mediated TOMM40 transcription axis in rheumatoid arthritis.

Free radical biology &amp; medicine
2025

Regulation of Mutant Huntingtin Mitochondrial Toxicity by Phosphomimetic Mutations within Its N-Terminal Region.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2025

Mitochondrial YME1L1 governs unoccupied protein translocase channels.

Nature cell biology
2025

Thirty years of StAR gazing. Expanding the universe of the steroidogenic acute regulatory protein.

The Journal of endocrinology
2024

Hotspots for Disease-Causing Mutations in the Mitochondrial TIM23 Import Complex.

Genes
2025

Aberrant activation of adenine nucleotide translocase 3 promotes progression and chemoresistance in multiple myeloma dependent on PINK1 transport.

International journal of biological sciences
2025

Association of APOE alleles and polygenic profiles comprising APOE-TOMM40-APOC1 variants with Alzheimer's disease neuroimaging markers.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2024

Mitochondrial quality control: the real dawn of intervertebral disc degeneration?

Journal of translational medicine
2024

Subcellular NAD+ pools are interconnected and buffered by mitochondrial NAD.

Nature metabolism
2024

Mitochondria-targeted oligomeric α-synuclein induces TOM40 degradation and mitochondrial dysfunction in Parkinson's disease and parkinsonism-dementia of Guam.

Cell death &amp; disease
2024

Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50.

eLife
2024

GRIM-19-mediated induction of mitochondrial STAT3 alleviates systemic sclerosis by inhibiting fibrosis and Th2/Th17 cells.

Experimental &amp; molecular medicine
2024

Shared Genetic Links Between Nonalcoholic Fatty Liver Disease and Coronary Artery Disease.

Global heart
2024

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

EBioMedicine
2024

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.

Journal of medical genetics
2024

Analysis of mitochondrial biogenesis regulation by oxidative stress.

Methods in enzymology
2024

Analysis of targeting signals for mitochondrial intermembrane space import.

Methods in enzymology
2024

Monitoring mitochondrial precursor processing and presequence peptide degradation.

Methods in enzymology
2024

Transgelin 2 guards T cell lipid metabolism and antitumour function.

Nature
2024

Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2024

Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.

Molecular metabolism
2024

Identification of Haemoproteus infection in an imported grey crowned crane (Balearica regulorum) in China.

Parasitology research
2024

The role of PINK1-Parkin in mitochondrial quality control.

Nature cell biology
2024

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

Nature communications
2025

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

American journal of medical genetics. Part A
2024

Translation stalling induced mitochondrial entrapment of ribosomal quality control related proteins offers cancer cell vulnerability.

Research square
2024

Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.

JCI insight
2024

Role of TOMM34 on NF-κB activation-related hyperinflammation in severely ill patients with COVID-19 and influenza.

EBioMedicine
2024

Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.

Human molecular genetics
2024

Nucleoporin 153 deficiency in adult neural stem cells defines a pathological protein-network signature and defective neurogenesis in a mouse model of AD.

Stem cell research &amp; therapy
2024

Amyotrophic Lateral Sclerosis and swim training affect copper metabolism in skeletal muscle in a mouse model of disease.

Muscle &amp; nerve
2024

Identification of Autophagy-Related Biomarkers and Diagnostic Model in Alzheimer's Disease.

Genes
2024

Unfolded proteins in the mitochondria activate HRI and inhibit mitochondrial protein translation.

Cellular signalling
2024

Mitochondrial-derived compartments remove surplus proteins from the outer mitochondrial membrane.

The Journal of cell biology
2024

Omnibus proteome-wide association study identifies 43 risk genes for Alzheimer disease dementia.

American journal of human genetics
2024

Translocase of Outer Mitochondrial Membrane 40, as a Promising Biomarker for the Diagnosis of Polycystic Ovary Syndrome and Pan-Cancer.

Reproductive sciences (Thousand Oaks, Calif.)
2024

Spautin-1 promotes PINK1-PRKN-dependent mitophagy and improves associative learning capability in an alzheimer disease animal model.

Autophagy
2024

Human fascioliasis emergence in southern Asia: Complete nuclear rDNA spacer and mtDNA gene sequences prove Indian patient infection related to fluke hybridization in northeastern India and Bangladesh.

One health (Amsterdam, Netherlands)
2024

Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import.

Nature genetics
2024

Asymmetric apical domain states of mitochondrial Hsp60 coordinate substrate engagement and chaperonin assembly.

Nature structural &amp; molecular biology
2024

N-Myristoytransferase Inhibition Causes Mitochondrial Iron Overload and Parthanatos in TIM17A-Dependent Aggressive Lung Carcinoma.

Cancer research communications
2024

Low-Iron Diet-Induced Fatty Liver Development Is Microbiota Dependent and Exacerbated by Loss of the Mitochondrial Iron Importer Mitoferrin2.

Nutrients
2024

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.

The Journal of endocrinology
2024

Enhancing mitochondrial proteolysis alleviates alpha-synuclein-mediated cellular toxicity.

NPJ Parkinson's disease
2024

Activation of the integrated stress response in human hair follicles.

PloS one
2025

Mitochondrial membrane synthesis, remodelling and cellular trafficking.

Journal of inherited metabolic disease
2024

Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.

Frontiers in cell and developmental biology
2024

Mitochondrial endogenous substance transport-inspired nanomaterials for mitochondria-targeted gene delivery.

Advanced drug delivery reviews
2024

Mechanism of human PINK1 activation at the TOM complex in a reconstituted system.

Science advances
2024

Redox regulation of UPR signalling and mitochondrial ER contact sites.

Cellular and molecular life sciences : CMLS
2024

Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease.

Molecular and cellular biology
2024

Targeting KPNB1 with genkwadaphnin suppresses gastric cancer progression through the Nur77-mediated signaling pathway.

European journal of pharmacology
2024

SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells.

Biochemical and biophysical research communications
2024

Cystine/glutamate antiporter xCT controls skeletal muscle glutathione redox, bioenergetics and differentiation.

Redox biology
2024

Long-read sequencing for 29 immune cell subsets reveals disease-linked isoforms.

Nature communications
2024

TOM5 regulates the mitochondrial membrane potential of alveolar epithelial cells in organizing pneumonia.

Redox report : communications in free radical research
2024

Molecular Characterization and Inhibition of a Novel Stress-Induced Mitochondrial Protecting Role for Misfolded TrkAIII in Human SH-SY5Y Neuroblastoma Cells.

International journal of molecular sciences
2024

Export of heme by the feline leukemia virus C receptor regulates mitochondrial biogenesis and redox balance in the hematophagous insect Rhodnius prolixus.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2024

Mitochondrial Chaperone Code: Just warming up.

Cell stress &amp; chaperones
2024

Defective ferritinophagy and imbalanced iron metabolism in PBDE-47-triggered neuronal ferroptosis and salvage by Canolol.

The Science of the total environment
2024

Mitochondrial dynamics: updates and perspectives.

Scientific reports
2024

[Genetic basis of postoperative cognitive dysfunction].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2024

A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.

Brain : a journal of neurology
2024

Mitochondrial phosphate-carrier deficiency mimicking infantile-onset Pompe disease.

American journal of medical genetics. Part A
2024

Intermembrane space-localized TbTim15 is an essential subunit of the single mitochondrial inner membrane protein translocase of trypanosomes.

Molecular microbiology
2024

Allopregnanolone and its antagonist modulate neuroinflammation and neurological impairment.

Neuroscience and biobehavioral reviews
2024

Mitochondrial import stress and PINK1-mediated mitophagy: the role of the PINK1-TOMM-TIMM23 supercomplex.

Autophagy
2024

Exploring Genetic Associations of 3 Types of Risk Factors With Ischemic Stroke: An Integrated Bioinformatics Study.

Stroke
2024

On the effect heterogeneity of established disease susceptibility loci for Alzheimer's disease across different genetic ancestries.

Alzheimer's &amp; dementia : the journal of the Alzheimer's Association
2024

Cytosolic retention of HtrA2 during mitochondrial protein import stress triggers the DELE1-HRI pathway.

Communications biology
2024

Loss of WIPI4 in neurodegeneration causes autophagy-independent ferroptosis.

Nature cell biology
2024

Localization of RNAs to the mitochondria-mechanisms and functions.

RNA (New York, N.Y.)
2024

Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene.

Mitochondrion
2024

Tom20 gates PINK1 activity and mediates its tethering of the TOM and TIM23 translocases upon mitochondrial stress.

Proceedings of the National Academy of Sciences of the United States of America
2024

SLC25A51 decouples the mitochondrial NAD+/NADH ratio to control proliferation of AML cells.

Cell metabolism
2024

Rescue of mitochondrial import failure by intercellular organellar transfer.

Nature communications
2024

TIM22 and TIM29 inhibit HBV replication by up-regulating SRSF1 expression.

Journal of medical virology
2024

New insights into the role of mitochondrial metabolic dysregulation and immune infiltration in septic cardiomyopathy by integrated bioinformatics analysis and experimental validation.

Cellular &amp; molecular biology letters
2024

The Role of Chorein Deficiency in Late Spermatogenesis.

Biomedicines
2024

Reprimo (RPRM) mediates neuronal ferroptosis via CREB-Nrf2/SCD1 pathways in radiation-induced brain injury.

Free radical biology &amp; medicine
2023

PMPCA-Related Encephalopathy: Novel Variants, Phenotype Extension, and Mitochondrial Morphology.

Neurology. Genetics
2025

TOMM40 Correlates with Cholesterol and is Predictive of a Favorable Prognosis in Endometrial Carcinoma.

Combinatorial chemistry &amp; high throughput screening
2024

APOL1-mediated monovalent cation transport contributes to APOL1-mediated podocytopathy in kidney disease.

The Journal of clinical investigation
2024

Distinct structural motifs are necessary for targeting and import of Tim17 in Trypanosoma brucei mitochondrion.

mSphere
2024

CRISPR/Cas9-mediated base editors and their prospects for mitochondrial genome engineering.

Gene therapy
2024

Amyotrophic lateral sclerosis associated disturbance of iron metabolism is blunted by swim training-role of AKT signaling pathway.

Biochimica et biophysica acta. Molecular basis of disease
2023

Transgelin 2 guards T cell lipid metabolic programming and anti-tumor function.

Research square
2024

Neuroprotective Mushrooms.

NeuroImmune pharmacology and therapeutics
2024

AGO2 Protects Against Diabetic Cardiomyopathy by Activating Mitochondrial Gene Translation.

Circulation
2023

One advantageous reflection of iron metabolism in context of normal physiology and pathological phases.

Clinical nutrition ESPEN
2023

Mfsd7b facilitates choline transport and missense mutations affect choline transport function.

Cellular and molecular life sciences : CMLS
2024

Classifying Alzheimer's disease and normal subjects using machine learning techniques and genetic-environmental features.

Journal of the Formosan Medical Association = Taiwan yi zhi
2024

NADH improves AIF dimerization and inhibits apoptosis in iPSCs-derived neurons from patients with auditory neuropathy spectrum disorder.

Hearing research
2023

Decoding mitochondrial-nuclear (epi)genome interactions: the emerging role of ncRNAs.

Epigenomics
2023

Interactions of amyloidogenic proteins with mitochondrial protein import machinery in aging-related neurodegenerative diseases.

Frontiers in physiology
2023

Mechanisms of stress management in mitochondrial protein import.

Biochemical Society transactions
2023

LPGAT1 controls MEGDEL syndrome by coupling phosphatidylglycerol remodeling with mitochondrial transport.

Cell reports
2024

Mitochondrial Translocase TOMM22 Is Overexpressed in Pancreatic Cancer and Promotes Aggressive Growth by Modulating Mitochondrial Protein Import and Function.

Molecular cancer research : MCR
2023

Genotypic Effects of the TOMM40'523 Variant and APOE on Longitudinal Cognitive Change over 4 Years: The TOMMORROW Study.

The journal of prevention of Alzheimer's disease

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Doença da importação proteica mitocondrial.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Doença da importação proteica mitocondrial

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. The genetic architecture of postoperative delirium after major surgery and its relationship with nonpostoperative neurocognitive conditions: A genome-wide association study.
    PLoS medicine· 2026· PMID 41770756mais citado
  2. ALDH2 activation protects against mutant TOMM40-mediated mitochondrial dysfunction and neurodegeneration in Alzheimer's disease.
    Life sciences· 2026· PMID 41692154mais citado
  3. Loss of Sugen Kinase 495 in macrophages alleviates chronic colitis by improving mitochondrial stress.
    Biochimica et biophysica acta. Molecular cell research· 2026· PMID 41489539mais citado
  4. Synuclein and Mitochondrial Dysfunction: Regulating the Protein Import Complex toward PD Treatment?
    ACS chemical neuroscience· 2026· PMID 41454848mais citado
  5. A direct role for a mitochondrial targeting sequence in signalling stress.
    Nature· 2026· PMID 41372412mais citado
  6. Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.
    HGG Adv· 2026· PMID 41981912recente
  7. The integrated stress response suppresses PINK1-dependent mitophagy by preserving mitochondrial import efficiency.
    Nat Commun· 2026· PMID 41957015recente
  8. TOMM40 suppression promotes neuronal cholesterol imbalance and molecular and behavioral phenotypes of Alzheimer's disease.
    Alzheimers Dement· 2026· PMID 41954048recente
  9. Disruption of Mitophagy-Related Gene Expression in Gestational Diabetes Mellitus: A Transcriptomic and Machine Learning Approach.
    J Diabetes Res· 2026· PMID 41873208recente
  10. Mitochondrial Precursor Overaccumulation Stress.
    Annu Rev Biochem· 2026· PMID 41861243recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:254834(Orphanet)
  2. MONDO:0016802(MONDO)
  3. GARD:20763(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55786465(Wikidata)

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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença da importação proteica mitocondrial
Compêndio · Raras BR

Doença da importação proteica mitocondrial

ORPHA:254834 · MONDO:0016802
CID-11
MedGen
UMLS
C5680717
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades