Mechanism of protection against alcoholism by an alcohol dehydrogenase polymorphism: development of an animal model

FASEB J. 2010 Jan;24(1):266-74. doi: 10.1096/fj.09-132563. Epub 2009 Aug 26.

Abstract

Humans who carry a point mutation in the gene coding for alcohol dehydrogenase-1B (ADH1B*2; Arg47His) are markedly protected against alcoholism. Although this mutation results in a 100-fold increase in enzyme activity, it has not been reported to cause higher levels of acetaldehyde, a metabolite of ethanol known to deter alcohol intake. Hence, the mechanism by which this mutation confers protection against alcoholism is unknown. To study this protective effect, the wild-type rat cDNA encoding rADH-47Arg was mutated to encode rADH-47His, mimicking the human mutation. The mutated cDNA was incorporated into an adenoviral vector and administered to genetically selected alcohol-preferring rats. The V(max) of rADH-47His was 6-fold higher (P<0.001) than that of the wild-type rADH-47Arg. Animals transduced with rAdh-47His showed a 90% (P<0.01) increase in liver ADH activity and a 50% reduction (P<0.001) in voluntary ethanol intake. In animals transduced with rAdh-47His, administration of ethanol (1g/kg) produced a short-lived increase of arterial blood acetaldehyde concentration to levels that were 3.5- to 5-fold greater than those in animals transduced with the wild-type rAdh-47Arg vector or with a noncoding vector. This brief increase (burst) in arterial acetaldehyde concentration after ethanol ingestion may constitute the mechanism by which humans carrying the ADH1B*2 allele are protected against alcoholism.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetaldehyde / blood
  • Adenoviridae / genetics
  • Alcohol Dehydrogenase / genetics*
  • Alcohol Dehydrogenase / metabolism
  • Alcoholism / enzymology*
  • Alcoholism / genetics
  • Alcoholism / prevention & control*
  • Alleles
  • Amino Acid Substitution
  • Animals
  • Animals, Genetically Modified
  • Base Sequence
  • Cell Line
  • DNA Primers / genetics
  • Disease Models, Animal
  • Ethanol / administration & dosage
  • Genetic Vectors
  • Humans
  • Kinetics
  • Mutagenesis, Site-Directed
  • Point Mutation
  • Polymorphism, Genetic
  • Rats
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Transduction, Genetic
  • Transfection

Substances

  • DNA Primers
  • Recombinant Proteins
  • Ethanol
  • ADH1B protein, human
  • Alcohol Dehydrogenase
  • Acetaldehyde