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Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy
D R Johns1, M J Neufeld, T R Hedges
1Department of Neurology, Harvard Medical School, Beth Israel Hospital, Boston, MA 02115.
Summary
Mitochondrial DNA (mtDNA) mutations may contribute to Cuban epidemic optic and peripheral neuropathy (COPN). Some COPN patients carried mutations linked to Leber's hereditary optic neuropathy (LHON), suggesting a potential genetic susceptibility.
Area of Science:
- Neuroscience
- Genetics
- Mitochondrial Biology
Background:
- An epidemic of optic and peripheral neuropathy (COPN) occurred in Cuba.
- Mitochondrial DNA (mtDNA) mutations are implicated in various neurological disorders.
Purpose of the Study:
- Investigate the role of mtDNA mutations in the Cuban epidemic optic and peripheral neuropathy (COPN).
- Assess the presence of Leber's hereditary optic neuropathy (LHON)-associated mtDNA mutations in COPN patients.
Main Methods:
- Reviewed historical data and performed neuro-ophthalmologic examinations on COPN patients.
- Utilized molecular genetic methods to screen for 9 specific mtDNA mutations associated with LHON.
Main Results:
- Two of nine COPN patients (22%) had an LHON-associated mtDNA mutation at position 9438 and a novel mutation at position 9738 in the cytochrome c oxidase subunit III gene.
- No other LHON-associated mtDNA mutations were found in the Cuban patients.
- Sequence analysis revealed 7 distinct mtDNA haplotypes among Cuban patients; the two with mutations were not maternally related.
Conclusions:
- The pathogenesis of epidemic COPN is likely multifactorial.
- mtDNA mutations may contribute to susceptibility in some COPN cases.
- These mutations could interact with environmental factors affecting oxidative phosphorylation.