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

Lookup NU author(s): Professor Mark Birch-MachinORCiD, Professor Robert Taylor, Emeritus Professor Doug Turnbull


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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 covalendy. 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 neuro-degenerative disease.

Publication metadata

Author(s): Taylor RW; Birch-Machin MA; Turnbull DM; Cochran B; Ackrell BAC

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2000

Volume: 48

Issue: 3

Pages: 330-335

Print publication date: 01/01/2000

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons


DOI: 10.1002/1531-8249(200009)48:3<330::AID-ANA7>3.0.CO;2-A

PubMed id: 10976639


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