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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.

SUBMITTER: Procaccio V

PROVIDER: S-EPMC2821060 | biostudies-literature | 2004 May

REPOSITORIES: biostudies-literature

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

Procaccio Vincent V Wallace Douglas C DC

Neurology 20040501 10

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. ...[more]

PMID: 15159508

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