Mitochondrial DNA Mutations in Cuban Optic and Peripheral Neuropathy

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Title Mitochondrial DNA Mutations in Cuban Optic and Peripheral Neuropathy
Creator Donald R. Johns, MD; Michael J. Neufeld; Thomas R. Hedges, III, MD
Affiliation Department of Neurology, Harvard Medical School, Beth Israel Hospital, Boston, MA 02115
Abstract OBJECTIVE: To investigate the potential role of mitochondrial DNA (mtDNA) mutations in the recent outbreak in Cuba of optic neuropathy and peripheral neuropathy (COPN). DESIGN AND METHODS: Historical features were reviewed and neuro-ophthalmologic examinations were performed on a sample of COPN patients (n = 9) and Cuban patients with other forms of optic neuropathy (n = 2). Molecular genetic methods were then used to test for the presence of 9 mtDNA mutations that were previously associated with Leber's hereditary optic neuropathy (LHON). RESULTS: Two (22%) of 9 COPN patients harbored an LHON-associated mtDNA mutation at nucleotide position 9438 and a novel mutation at nucleotide position 9738 in the cytochrome c oxidase subunit III gene. None of the Cuban patients harbored any of the 8 other LHON-associated mtDNA mutations. Detailed sequence analysis revealed that the Cuban patients could be divided into 7 distinct mtDNA haplotypes and that the 2 COPN patients with mtDNA mutations in the cytochrome c oxidase subunit III gene were not members of the same maternal lineage. CONCLUSIONS: The pathogenesis of epidemic COPN is likely complex and multifactorial. Our preliminary results in a small sample of Cuban patients suggest that mtDNA mutations may play a role in some cases. mtDNA mutations may render an individual genetically susceptible to a variety of factors that impair oxidative phosphorylation, including nutritional deficiency, tobacco, alcohol, and other toxins.
Subject Adult; Cuba/Epidemiology; Mitochondrial DNA; Disease Outbreaks; Electron Transport Complex IV/Genetics; Female; Haplotypes; Humans; Male; Middle Older people; Genetic Mutation; Optic Atrophies, Hereditary/Epidemiology; Optic Atrophies, Hereditary/Genetics; Optic Nerve Diseases/Epidemiology; Optic Nerve Diseases/Genetics; Peripheral Nervous System Diseases/Epidemiology; Peripheral Nervous System Diseases/Etiology; Peripheral Nervous System Diseases/Genetics; Polymerase Chain Reaction
Date 1996-09
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s69k7h92
Setname ehsl_novel_jno
ID 224503
Reference URL https://collections.lib.utah.edu/ark:/87278/s69k7h92
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