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Hiperinsulinismo por deficiência de UCP2
ORPHA:276556CID-10 · E16.1DOENÇA RARA

O Hiperinsulinismo por deficiência de UCP2 (HIUCP2) é um tipo de hiperinsulinismo difuso (DHI) que responde ao medicamento diazóxido. Ele se manifesta por episódios de queda do açúcar no sangue desde o nascimento, mostra uma boa resposta clínica ao diazóxido e é provavelmente uma condição temporária que se resolve sozinha.

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Introdução

O que você precisa saber de cara

📋

O Hiperinsulinismo por deficiência de UCP2 (HIUCP2) é um tipo de hiperinsulinismo difuso (DHI) que responde ao medicamento diazóxido. Ele se manifesta por episódios de queda do açúcar no sangue desde o nascimento, mostra uma boa resposta clínica ao diazóxido e é provavelmente uma condição temporária que se resolve sozinha.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
2
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: E16.1
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Sinais e sintomas

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

Partes do corpo afetadas

📏
Crescimento
7 sintomas
🧠
Neurológico
3 sintomas
❤️
Coração
2 sintomas
🫃
Digestivo
2 sintomas
🦴
Ossos e articulações
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

90%prev.
Hipoglicemia reativa
Muito frequente (99-80%)
90%prev.
Aumento do nível de peptídeo C
Muito frequente (99-80%)
90%prev.
Nível diminuído de ácidos graxos livres circulantes
Muito frequente (99-80%)
90%prev.
Hipoglicemia hiperinsulinêmica
Muito frequente (99-80%)
90%prev.
Hipoglicemia recorrente
Muito frequente (99-80%)
90%prev.
Resposta excessiva de insulina ao teste de glucagon
Muito frequente (99-80%)
26sintomas
Muito frequente (7)
Frequente (8)
Ocasional (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 26 características clínicas mais associadas, ordenadas por frequência.

Hipoglicemia reativaReactive hypoglycemia
Muito frequente (99-80%)90%
Aumento do nível de peptídeo CIncreased C-peptide level
Muito frequente (99-80%)90%
Nível diminuído de ácidos graxos livres circulantesDecreased circulating free fatty acid level
Muito frequente (99-80%)90%
Hipoglicemia hiperinsulinêmicaHyperinsulinemic hypoglycemia
Muito frequente (99-80%)90%
Hipoglicemia recorrenteRecurrent hypoglycemia
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2desde 2024
Últimos 10 anos4publicações
Pico20161 papers
Linha do tempo
2024Hoje · 2026
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

UCP2Dicarboxylate carrier SLC25A8Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Antiporter that exports dicarboxylate intermediates of the Krebs cycle in exchange for phosphate plus a proton across the inner membrane of mitochondria, a process driven by mitochondrial motive force with an overall impact on glycolysis, glutaminolysis and glutathione-dependent redox balance. Continuous export of oxaloacetate and related four-carbon dicarboxylates from mitochondrial matrix into the cytosol negatively regulates the oxidation of acetyl-CoA substrates via the Krebs cycle, lowering

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
The fatty acid cycling model
EXPRESSÃO TECIDUAL(Ubíquo)
Baço
245.1 TPM
Linfócitos
189.5 TPM
Sangue
175.4 TPM
Pulmão
68.6 TPM
Tireoide
67.7 TPM
OUTRAS DOENÇAS (1)
hyperinsulinism due to UCP2 deficiency
HGNC:12518UniProt:P55851

Variantes genéticas (ClinVar)

15 variantes patogênicas registradas no ClinVar.

🧬 UCP2: NM_003355.3(UCP2):c.914G>A (p.Arg305Gln) ()
🧬 UCP2: NM_003355.3(UCP2):c.*115C>T ()
🧬 UCP2: NM_003355.3(UCP2):c.503G>A (p.Arg168Gln) ()
🧬 UCP2: GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 ()
🧬 UCP2: NM_003355.3(UCP2):c.808T>C (p.Tyr270His) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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 — Hiperinsulinismo por deficiência de UCP2

🗺️

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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Impact of visceral adipose tissue on longevity and metabolic health: a comparative study of gene expression in perirenal and epididymal fat of Ames dwarf mice.

GeroScience2024 Dec

Emerging research underscores the pivotal role of adipose tissue in regulating systemic aging processes, particularly when viewed through the lens of the endocrine hypotheses of aging. This study delves into the unique adipose characteristics in an important animal model of aging - the long-lived Ames dwarf (df/df) mice. Characterized by a Prop1df gene mutation, these mice exhibit a deficiency in growth hormone (GH), prolactin, and TSH, alongside extremely low circulating IGF-1 levels. Intriguingly, while surgical removal of visceral fat (VFR) enhances insulin sensitivity in normal mice, it paradoxically increases insulin resistance in Ames dwarfs. This suggests an altered profile of factors produced in visceral fat in the absence of GH, indicating a unique interplay between adipose tissue function and hormonal influences in these models. Our aim was to analyze the gene expression related to lipid and glucose metabolism, insulin pathways, inflammation, thermoregulation, mitochondrial biogenesis, and epigenetic regulation in the visceral (perirenal and epididymal) adipose tissue of Ames dwarf and normal mice. Our findings reveal an upregulation in the expression of key genes such as Lpl, Adrβ3, Rstn, Foxo1, Foxo3a, Irs1, Cfd, Aldh2, Il6, Tnfα, Pgc1α, Ucp2, and Ezh2 in perirenal and Akt1, Foxo3a, PI3k, Ir, Acly, Il6, Ring1a, and Ring 1b in epididymal fat in df/df mice. These results suggest that the longevity phenotype in Ames dwarfs, which is determined by peripubertal GH/IGF-1 levels, may also involve epigenetic reprogramming of adipose tissue influenced by hormonal changes. The increased expression of genes involved in metabolic regulation, tumor suppression, mitochondrial biogenesis, and insulin pathways in Ames dwarf mice highlights potentially beneficial aspects of this model, opening new avenues for understanding the molecular underpinnings of longevity and aging.

#2

The role of uncoupling protein 2 in macrophages and its impact on obesity-induced adipose tissue inflammation and insulin resistance.

The Journal of biological chemistry2020 Dec 18

The development of a chronic, low-grade inflammation originating from adipose tissue in obese subjects is widely recognized to induce insulin resistance, leading to the development of type 2 diabetes. The adipose tissue microenvironment drives specific metabolic reprogramming of adipose tissue macrophages, contributing to the induction of tissue inflammation. Uncoupling protein 2 (UCP2), a mitochondrial anion carrier, is thought to separately modulate inflammatory and metabolic processes in macrophages and is up-regulated in macrophages in the context of obesity and diabetes. Here, we investigate the role of UCP2 in macrophage activation in the context of obesity-induced adipose tissue inflammation and insulin resistance. Using a myeloid-specific knockout of UCP2 (Ucp2ΔLysM), we found that UCP2 deficiency significantly increases glycolysis and oxidative respiration, both unstimulated and after inflammatory conditions. Strikingly, fatty acid loading abolished the metabolic differences between Ucp2ΔLysM macrophages and their floxed controls. Furthermore, Ucp2ΔLysM macrophages show attenuated pro-inflammatory responses toward Toll-like receptor-2 and -4 stimulation. To test the relevance of macrophage-specific Ucp2 deletion in vivo, Ucp2ΔLysM and Ucp2fl/fl mice were rendered obese and insulin resistant through high-fat feeding. Although no differences in adipose tissue inflammation or insulin resistance was found between the two genotypes, adipose tissue macrophages isolated from diet-induced obese Ucp2ΔLysM mice showed decreased TNFα secretion after ex vivo lipopolysaccharide stimulation compared with their Ucp2fl/fl littermates. Together, these results demonstrate that although UCP2 regulates both metabolism and the inflammatory response of macrophages, its activity is not crucial in shaping macrophage activation in the adipose tissue during obesity-induced insulin resistance.

#3

Possible mechanisms underlying fatty liver in a rat model of male hypogonadism: A protective role for testosterone.

Steroids2018 Jul

To investigate the effects of testosterone (Test) deficiency and testosterone replacement therapy (TRT) on the development of non-alcoholic fatty liver disease (NAFLD) and associated peripheral insulin resistance (IR) in male rats and to illustrate the underlying mechanisms of action. male Sprague Dawley rats were divided into 3 groups as follows: 1) sham-operated group (n = 11), 2) ORCD-induced group (n = 9) exposed to orchidectomy (ORCD), achieved by complete surgical removal of testicles, and 3) ORCD + Test treated group (n = 10) (11 ng/mL Test propionate, 3x/week, S.C.). Data revealed significant increases in final body, liver, visceral and subcutaneous fats weights with significant increases in fasting plasma glucose and insulin levels and HOMA-IR. Additionally, ORCD rats had higher UAC for measured glucose levels and insulin levels during OGTT and higher AUC for measured glucose levels during ITT. Interesting, higher serum and hepatic levels of TGs and CHOL and higher serum levels of LDL were seen in ORCD-induced rats. Mechanistically, significant increases in mRNA levels of SREBP-1, SREBP-2, ACC-1, FAS, HMGCOAR and HMGCOAS with significant increases in protein levels of both precursor and mature SREBP-1 and SREBP-2, PPAR-α, p-PPAR-α, CPT-1 and UCP-2 and significant lower protein levels p-AMPK and p-ACC-1 were detected in livers of ORCD rats. Test administration to ORCD-induced rats significantly ameliorated all of the above mentioned biochemical endpoints and reversed the effect of ORCD on mRNA and protein levels of these targets. In conclusion, Test deficiency could be an independent risk factor for the development of NAFLD by upregulation of lipid synthesis and disturb fatty acids oxidation whereas Test therapy is a protective strategy.

#4

Expression profiling analysis: Uncoupling protein 2 deficiency improves hepatic glucose, lipid profiles and insulin sensitivity in high-fat diet-fed mice by modulating expression of genes in peroxisome proliferator-activated receptor signaling pathway.

Journal of diabetes investigation2016 Mar

Uncoupling protein 2 (UCP2), which was an important mitochondrial inner membrane protein associated with glucose and lipid metabolism, widely expresses in all kinds of tissues including hepatocytes. The present study aimed to explore the impact of UCP2 deficiency on glucose and lipid metabolism, insulin sensitivity and its effect on the liver-associated signaling pathway by expression profiling analysis. Four-week-old male UCP2-/- mice and UCP2+/+ mice were randomly assigned to four groups: UCP2-/- on a high-fat diet, UCP2-/- on a normal chow diet, UCP2+/+ on a high-fat diet and UCP2+/+ on a normal chow diet. The differentially expressed genes in the four groups on the 16th week were identified by Affymetrix gene array. The results of intraperitoneal glucose tolerance test and insulin tolerance showed that blood glucose and β-cell function were improved in the UCP2-/- group on high-fat diet. Enhanced insulin sensitivity was observed in the UCP2-/- group. The differentially expressed genes were mapped to 23 pathways (P < 0.05). We concentrated on the 'peroxisome proliferator-activated receptor (PPAR) signaling pathway' (P = 3.19 × 10(-11)), because it is closely associated with the regulation of glucose and lipid profiles. In the PPAR signaling pathway, seven genes (PPARγ, Dbi, Acsl3, Lpl, Me1, Scd1, Fads2) in the UCP2-/- mice were significantly upregulated. The present study used gene arrays to show that activity of the PPAR signaling pathway involved in the improvement of glucose and lipid metabolism in the liver of UCP2-deficient mice on a long-term high-fat diet. The upregulation of genes in the PPAR signaling pathway could explain our finding that UCP2 deficiency ameliorated insulin sensitivity. The manipulation of UCP2 protein expression could represent a new strategy for the prevention and treatment of diabetes.

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. Impact of visceral adipose tissue on longevity and metabolic health: a comparative study of gene expression in perirenal and epididymal fat of Ames dwarf mice.
    GeroScience· 2024· PMID 38517641mais citado
  2. The role of uncoupling protein 2 in macrophages and its impact on obesity-induced adipose tissue inflammation and insulin resistance.
    The Journal of biological chemistry· 2020· PMID 33453996mais citado
  3. Possible mechanisms underlying fatty liver in a rat model of male hypogonadism: A protective role for testosterone.
    Steroids· 2018· PMID 29674209mais citado
  4. Expression profiling analysis: Uncoupling protein 2 deficiency improves hepatic glucose, lipid profiles and insulin sensitivity in high-fat diet-fed mice by modulating expression of genes in peroxisome proliferator-activated receptor signaling pathway.
    Journal of diabetes investigation· 2016· PMID 27042269mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:276556(Orphanet)
  2. MONDO:0017183(MONDO)
  3. GARD:21054(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Q55786895(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

Compêndio · Raras BR

Hiperinsulinismo por deficiência de UCP2

ORPHA:276556 · MONDO:0017183
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
Herança
Autosomal dominant
CID-10
E16.1 · Outra hipoglicemia
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4303082
Wikidata
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