Abstract | PURPOSE: METHODS: 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.
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Authors | Gavin Hudson, Patrick Yu-Wai-Man, Massimo Zeviani, Patrick F Chinnery |
Journal | Molecular vision
(Mol Vis)
Vol. 15
Pg. 870-5
( 2009)
ISSN: 1090-0535 [Electronic] United States |
PMID | 19421414
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Mitochondrial
- Methylenetetrahydrofolate Reductase (NADPH2)
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Topics |
- Adult
- Blindness
(genetics)
- DNA, Mitochondrial
(genetics)
- Disease Progression
- Female
- Gene Frequency
- Humans
- Male
- Methylenetetrahydrofolate Reductase (NADPH2)
(genetics)
- Optic Atrophy, Hereditary, Leber
(genetics)
- Phenotype
- Polymorphism, Single Nucleotide
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