Genes, environment, and orofacial clefting: N-acetyltransferase and folic acid

J Craniofac Surg. 2010 Sep;21(5):1384-7. doi: 10.1097/SCS.0b013e3181ec6992.

Abstract

Nonsyndromic orofacial clefting has been the subject of intense studies, both genetic and epidemiological. The findings have frequently been controversial because of lack of reproducibility. Mouse models provide the potential both for genetic and environmental uniformity. We have chosen to study the role of genetic susceptibility to teratogen-induced orofacial clefting, using 2 drugs (dilantin and corticosteroid) and 1 nondrug teratogen (6-aminonicotinamide). The strongest single genetic influence we have found is N-acetyltransferase 2. Our recent work and that of others suggest that the influence of this locus is mediated through alterations in folate metabolism. Our results support epidemiological findings in humans and possibly implicate altered cytosine methylation, potentially caused by environmental factors, at least in the A/J model.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • 6-Aminonicotinamide / toxicity*
  • Animals
  • Arylamine N-Acetyltransferase / genetics*
  • Cleft Lip / chemically induced*
  • Cleft Lip / genetics*
  • Cleft Lip / metabolism
  • Cleft Palate / chemically induced*
  • Cleft Palate / genetics*
  • Cleft Palate / metabolism
  • DNA Methylation
  • Disease Models, Animal
  • Folic Acid / metabolism*
  • Genetic Predisposition to Disease
  • Hydrocortisone / toxicity*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred Strains
  • Phenytoin / toxicity*
  • Polymerase Chain Reaction
  • Risk Factors

Substances

  • 6-Aminonicotinamide
  • Phenytoin
  • Folic Acid
  • Arylamine N-Acetyltransferase
  • Nat2 enzyme, mouse
  • Hydrocortisone