Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

Abstract

Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene. Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is essential for either the assembly or stability of complex I.