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Alcoholism pp 139-143 | Cite as

Biochemical and Genetic Studies in ALDH1-Deficient Subjects

  • Roberta Ward
  • Andrew Macpherson
  • Margaret Warren-Perry
  • Vibha Dave
  • Lily Hsu
  • Akira Yoshida
  • Timothy J. Peters
Part of the NATO ASI Series book series (NSSA, volume 206)

Abstract

At least nine isoenzymes of aldehyde dehydrogenase (E.C.1.2.1.3.) have been identified in man based on their enzymatic characteristics and physiochemical properties (Yoshida et al., 1990). Liver mitochondrial aldehyde dehydrogenase (ALDH2) probably plays a major role in acetaldehyde metabolism as its low km (1–2μM) is compatible with the circulating acetaldehyde levels after alcohol ingestion in both normal subjects and alcohol abusers (Arthur et al.,1984: Schumate et al., 1967; Kelding et al., 1983; Mezey and Tubon, 1971; Peters et al.,1987). The ALDH2 gene is 44 kbp in length and contains at least 12 exons which encode 517 amino acid residues (Hsu et al., 1988). These precisely match the reported protein sequence of ALDH2 (Hempel et al., 1985). A point mutation (C→A) leads to the formation of an enzymatically inactive subunit in exon 12 of the genetic sequence (Yoshida et al., 1984). This occurs in over 50% of Orientals (Goedde et al., 1979) and such individuals suffer an alcohol-flush reaction after ingestion of small amounts of ethanol. This is attributable to high circulating acetaldehyde concentrations (in excess of 15 µmol) and causes clinical symptoms such as increase in blood pressure and pulse rate (Wolffe, 1973).

Keywords

Aldehyde Dehydrogenase ALDHI Activity ALDH2 Gene Alcohol Sensitivity Acetaldehyde Metabolism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1991

Authors and Affiliations

  • Roberta Ward
    • 1
  • Andrew Macpherson
    • 1
  • Margaret Warren-Perry
    • 1
  • Vibha Dave
    • 2
  • Lily Hsu
    • 2
  • Akira Yoshida
    • 2
  • Timothy J. Peters
    • 1
  1. 1.Department of Clinical BiochemistryKing’s College School of Medicine & DentistryLondonUK
  2. 2.Molecular GeneticsBeckman Research InstituteDuarteUSA

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