"Double trouble” or digenic disorder in Complex I deficiency

• Author(s): Almeida, L.S. ; Ferreira, M. ; Nogueira, C. ; Furtado, F. ; Evangelista, T. ; Santorelli, F.M. ; Vilarinho, L.
• Date: 2012
• Persistent ID: http://hdl.handle.net/10400.18/1305
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Genéticas; Doenças Mitocondriais; Défice de Complexo I
• Document Type: Conference Object
• Language: English

Description

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.