"Double trouble” or digenic disorder in Complex I deficiency

• Autor(es): Almeida, L.S. ; Ferreira, M. ; Nogueira, C. ; Furtado, F. ; Evangelista, T. ; Santorelli, F.M. ; Vilarinho, L.
• Data: 2012
• Identificador Persistente: http://hdl.handle.net/10400.18/1305
• Origem: Repositório Científico do Instituto Nacional de Saúde
• Assunto(s): Doenças Genéticas; Doenças Mitocondriais; Défice de Complexo I
• Tipo de Documento: Documento de conferência
• Idioma: Inglês

Descrição

Complex I (CI) deficiency is a defect of OXPHOS caused by mutations in the mitochondrial or nuclear genomes. To date disease-causing mutations have been reported in all mitochondrial-encoded subunits and 22 nuclear genes. In about 50% of the patients no mutations are found, suggesting that undiscovered factors are an important cause of disease. In this study we report a consanguineous family from Southern Portugal with three affected children presenting with CI deficiency and 3-methylglutaconic aciduria type IV.