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Lookup NU author(s): Dr Gavin Hudson,
Dr Patrick Yu Wai Man,
Professor Patrick Chinnery
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
Purpose: Focal neurodegeneration of the optic nerve in Leber hereditary optic neuropathy (LHON) is primarily due to a maternally inherited mitochondrial DNA mutation. However, the markedly reduced penetrance of LHON and segregation pattern of visual failure within families implicates an interacting nuclear genetic locus modulating the phenotype. Folate deficiency is known to cause bilateral optic neuropathy, and defects of folate metabolism have been associated with nonarteritic ischemic optic neuropathy. Methods: Methylenetetrahydrofolate reductase (MTHFR) catalyzes a critical step in folate metabolism, and genetic variation in MTHFR has been associated with several late-onset neurodegenerative diseases. Results: We therefore determined whether functional genetic variants in MTHFR could account for the reduced penetrance in LHON by studying 414 LHON mtDNA mutation carriers. We found no evidence of association between visual failure in LHON and MTHFR polymorphisms or the MTHFR haplotype. Conclusions: Genetic variation in MTHFR does not provide an explanation for the variable phenotype in LHON.
Author(s): Hudson G, Yu Wai Man P, Zeviani M, Chinnery PF
Publication type: Article
Publication status: Published
Journal: Molecular Vision
ISSN (print): 1090-0535
Publisher: Molecular Vision