Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation

Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15592-7. doi: 10.1073/pnas.95.26.15592.

Abstract

Abnormalities of fatty acid metabolism are recognized to play a significant role in human disease, but the mechanisms remain poorly understood. Long-chain acyl-CoA dehydrogenase (LCAD) catalyzes the initial step in mitochondrial fatty acid oxidation (FAO). We produced a mouse model of LCAD deficiency with severely impaired FAO. Matings between LCAD +/- mice yielded an abnormally low number of LCAD +/- and -/- offspring, indicating frequent gestational loss. LCAD -/- mice that reached birth appeared normal, but had severely reduced fasting tolerance with hepatic and cardiac lipidosis, hypoglycemia, elevated serum free fatty acids, and nonketotic dicarboxylic aciduria. Approximately 10% of adult LCAD -/- males developed cardiomyopathy, and sudden death was observed in 4 of 75 LCAD -/- mice. These results demonstrate the crucial roles of mitochondrial FAO and LCAD in vivo.

Publication types

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

MeSH terms

  • Acyl-CoA Dehydrogenase, Long-Chain / deficiency*
  • Acyl-CoA Dehydrogenase, Long-Chain / genetics*
  • Acyl-CoA Dehydrogenase, Long-Chain / metabolism
  • Animals
  • Disease Models, Animal
  • Fatty Acids, Nonesterified / blood
  • Fatty Acids, Nonesterified / metabolism
  • Humans
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / pathology
  • Liver / metabolism
  • Liver / pathology
  • Mice
  • Mice, Knockout
  • Mitochondria, Liver / enzymology
  • Muscle, Skeletal / metabolism
  • Substrate Specificity

Substances

  • Fatty Acids, Nonesterified
  • Acyl-CoA Dehydrogenase, Long-Chain