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Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy

Lookup NU author(s): Professor Gavin Hudson, Dr Patrick Yu Wai Man, Professor Patrick Chinnery


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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.

Publication metadata

Author(s): Hudson G, Yu Wai Man P, Zeviani M, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Molecular Vision

Year: 2009

Volume: 15

Pages: 870-875

ISSN (print): 1090-0535

ISSN (electronic):

Publisher: Molecular Vision