期刊
PLOS GENETICS
卷 1, 期 2, 页码 205-212出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.0010023
关键词
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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.
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