Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with leber’s hereditary optic neuropathy

To define whether alcohol drinking provides a risk for Leber’s hereditary optic neuropathy (LHON), the genotypes of lowKm aldehyde dehydrogenase (ALDH2) and alcohol dehydrogenase type 2 (ADH2), major enzymes involving the alcohol metabolism, were examined in 29 unrelated Japanese patients with LHON associated with mitochondrial DNA 11778 mutation, 24 unrelated asymptomatic carriers with the mutation and 57 normal controls without the mutation. PCR-restriction detection revealed three genotypes of ALDH2 and ADH2. The allele frequencies of either enzyme in LHON patients, asymptomatic carriers, or both, did not differ from those in normal controls. There is no association between LHON and genotypes of alcohol-metabolizing enzymes. However, six of the LHON patients had frequent alcohol consumption, while none of the asymptomatic carriers claimed frequent drinking habit. Thus, we could not make a denial of drinking effects on optic nerve damage in LHON.