Details

Autor(en) / Beteiligte

• Birch-Machin, Mark A.
• Taylor, Robert W.
• Cochran, Bruce
• Ackrell, Brian A. C.
• Turnbull, Douglass M.

Titel

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

Ist Teil von

• Annals of neurology, 2000-09, Vol.48 (3), p.330-335

Ort / Verlag

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2000

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• Genetic defects affecting the mitochondrial respiratory chain are an important cause of neurological disease. Previously, we identified a family with complex II deficiency and late‐onset neurodegenerative disease with progressive optic atrophy, ataxia, and myopathy. The affected family members are now shown to carry a C‐to‐T transition in one allele of the nuclear gene encoding the flavoprotein subunit of complex II. Mutation of the equivalent base in Escherichia coli generates an inactive enzyme unable to bind flavin adenine dinucleotide covalently. Compatible with these findings, our patients have an approximate 50% decrease in complex II and succinate dehydrogenase activity. These results suggest that genetic defects of nuclear‐encoded subunits of the mitochondrial respiratory chain can result in late‐onset neurodegenerative disease. Ann Neurol 2000;48:330–335