Journal
PLOS GENETICS
Volume 1, Issue 2, Pages 205-212Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.0010023
Keywords
-
Categories
Ask authors/readers for more resources
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxiclation 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available