GENOTYPES OF ALDEHYDE DEHYDROGENASE AND ALCOHOL-DEHYDROGENASE POLYMORPHISMS IN PATIENTS WITH LEBER HEREDITARY OPTIC NEUROPATHY

To define whether alcohol drinking provides a risk for Leber's heredit ary optic neuropathy (LHON), the genotypes of low K-m aldehyde dehydro genase (ALDH2) and alcohol dehydrogenase type 2 (ADH(2)), major enzyme s involving the alcohol metabolism, were examined in 29 unrelated Japa nese patients with LHON associated with mitochondrial DNA 11778 mutati on, 24 unrelated asymptomatic carriers with the mutation and 57 normal controls without the mutation. PCR-restriction detection revealed thr ee genotypes of ALDH2 and ADH(2). The allele frequencies of either enz yme in LHON patients, asymptomatic carriers, or both, did not differ f rom those in normal controls. There is no association between LHON and genotypes of alcohol-metabolizing enzymes. However, six of the LHON p atients had frequent alcohol consumption, while none of the asymptomat ic carriers claimed frequent drinking habit. Thus, we could not make a denial of drinking effects on optic nerve damage in LHON.