Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
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.
Procaccio
Vincent
V
Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG), University of California, Irvine 92697-3940, USA. vproca@uci.edu
Wallace
Douglas C
DC
D017668:Age of Onset; D000595:Amino Acid Sequence; D002648:Child; D018450:Disease Progression; D004401:Dysarthria / Q000235:genetics; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D020233:Gait Disorders, Neurologic / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D008214:Lymphocytes / Q000737:chemistry / Q000648:ultrastructure; D008928:Mitochondria / Q000737:chemistry / Q000648:ultrastructure; D008931:Mitochondria, Muscle / Q000737:chemistry / Q000648:ultrastructure; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D009245:NADH Dehydrogenase; D010641:Phenotype; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
C113982:NDUFS8 protein, human; D016660:NAD(P)H Dehydrogenase (Quinone); D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I