Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with leber’s hereditary optic neuropathy
Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with leber’s hereditary optic neuropathy
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DOI：
10.1007/bf02766921
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发表时间：
1997-03
期刊：
影响因子：
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通讯作者：
Y. Isashiki;Y. Tabata;K. Kamimura;N. Ohba
中科院分区：
文献类型：
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作者：
Y. Isashiki;Y. Tabata;K. Kamimura;N. Ohba
为了确定饮酒是否会增加Leber遗传性视神经病变（LHON）的发病风险，我们检测了29例与线粒体DNA 11778突变相关的无亲缘关系的日本LHON患者、24例与线粒体DNA 11778突变无关的无症状携带者和57例无突变的正常对照者的低k - m醛脱氢酶（ALDH2）和2型酒精脱氢酶（ADH 2）这两种主要的酒精代谢酶的基因型。pcr -酶切检测显示ALDH2和adh2有3个基因型。LHON患者、无症状携带者或两者中任何一种酶的等位基因频率与正常对照组没有差异。LHON与酒精代谢酶基因型之间无相关性。然而，6例LHON患者有频繁饮酒，而无症状携带者均无频繁饮酒习惯。因此，我们不能否认饮酒对LHON视神经损伤的影响。
To define whether alcohol drinking provides a risk for Leber’s hereditary optic neuropathy (LHON), the genotypes of lowK m aldehyde dehydrogenase (ALDH2) and alcohol dehydrogenase type 2 (ADH 2), 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 ADH 2. 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.