Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin

J Clin Invest. 2006 Feb;116(2):506-11. doi: 10.1172/JCI26564. Epub 2006 Jan 26.

Abstract

Glyceryl trinitrate (GTN), also known as nitroglycerin, has been used to treat angina and heart failure for more than 130 years. Recently, it was shown that mitochondrial aldehyde dehydrogenase-2 (ALDH2) is responsible for formation of NO, the metabolite needed for GTN efficacy. In the present study, we show that the common G-to-A polymorphism in exon 12 of ALDH2--resulting in a Glu504Lys replacement that virtually eliminates ALDH2 activity in both heterozygotes and homozygotes--is associated with a lack of efficacy of sublingual GTN in Chinese subjects. We also show that the catalytic efficiency (Vmax/Km) of GTN metabolism of the Glu504 protein is approximately 10-fold higher than that of the Lys504 enzyme. We conclude that the presence of the Lys504 allele contributes in large part to the lack of an efficacious clinical response to nitroglycerin; we recommend that this genetic factor be considered when administering nitroglycerin to patients, especially Asians, 30-50% of whom possess the inactive ALDH2*2 mutant allele.

Publication types

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

MeSH terms

  • Administration, Sublingual
  • Aged
  • Aldehyde Dehydrogenase / genetics*
  • Aldehyde Dehydrogenase / metabolism
  • Aldehyde Dehydrogenase, Mitochondrial
  • China
  • Coronary Disease / drug therapy
  • Female
  • Fetus / anatomy & histology
  • Fetus / enzymology
  • Glutamic Acid / metabolism
  • Humans
  • Liver / enzymology
  • Male
  • Middle Aged
  • Nitroglycerin / administration & dosage*
  • Nitroglycerin / metabolism*
  • Nitroglycerin / therapeutic use
  • Point Mutation
  • Polymorphism, Genetic*
  • Recombinant Proteins / genetics
  • Recombinant Proteins / metabolism
  • Treatment Outcome

Substances

  • Recombinant Proteins
  • Glutamic Acid
  • ALDH2 protein, human
  • Aldehyde Dehydrogenase
  • Aldehyde Dehydrogenase, Mitochondrial
  • Nitroglycerin