期刊
PHARMACOLOGY
卷 61, 期 3, 页码 192-198出版社
KARGER
DOI: 10.1159/000028400
关键词
aldehyde dehydrogenases; genetic polymorphisms; metabolic diseases; alcoholism
资金
- NEI NIH HHS [R29 EY11490] Funding Source: Medline
- NIAAA NIH HHS [R01 AA11885] Funding Source: Medline
- NATIONAL EYE INSTITUTE [R29EY011490] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON ALCOHOL ABUSE AND ALCOHOLISM [R01AA011885] Funding Source: NIH RePORTER
Aldehyde dehydrogenases (ALDHs), a superfamily of NAD(P)(+)-dependent enzymes with similar primary structures, catalyze the oxidation of a wide spectrum of endogenous and exogenous aliphatic and aromatic aldehydes, Thus far, 16 ALDH genes with distinct chromosomal locations have been identified in the human genome. Polymorphism in ALDH2 is associated with altered acetaldehyde metabolism, decreased risk of alcoholism and increased risk of ethanol-induced cancers. Polymorphisms in ALDH3A2, ALDH4A1, ALDH5A1 and ALDH6A1 are associated with metabolic diseases generally characterized by neurologic complications. Mutations in ALDH3A2 cause loss of enzymatic activity and are the molecular basis of Sjogren-Larsson syndrome. Mutations in ALDH4A1 are associated with type II hyperprolinemia, Deficiency in ALDH5A1 causes 4-hydroxybutyric aciduria. Lack of ALDH6A1 appears to be associated with developmental delay. Allelic variants of the ALDH1A1, ALDH1B1, ALDH3A1 and ALDH9A1 genes have also been observed but not yet characterized. This review describes consequences of ALDH polymorphisms with respect to drug metabolism and disease. Copyright (C) 2000 S. Karger AG. Basel.
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