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- Title
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice.
- Authors
Tolwani, Ravi J; Hamm, Doug A; Tian, Liqun; Sharer, J Daniel; Vockley, Jerry; Rinaldo, Piero; Matern, Dietrich; Schoeb, Trenton R; Wood, Philip A
- Abstract
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation in humans. To better understand the pathogenesis of this disease, we developed a mouse model for MCAD deficiency (MCAD-/-) by gene targeting in embryonic stem (ES) cells. The MCAD-/- mice developed an organic aciduria and fatty liver, and showed profound cold intolerance at 4 degrees C with prior fasting. The sporadic cardiac lesions seen in MCAD-/- mice have not been reported in human MCAD patients. There was significant neonatal mortality of MCAD-/- pups demonstrating similarities to patterns of clinical episodes and mortality in MCAD-deficient patients. The MCAD-deficient mouse reproduced important aspects of human MCAD deficiency and is a valuable model for further analysis of the roles of fatty acid oxidation and pathogenesis of human diseases involving fatty acid oxidation.
- Publication
PLoS genetics, 2005, Vol 1, Issue 2, pe23
- ISSN
1553-7390
- Publication type
Journal Article
- DOI
10.1371/journal.pgen.0010023