Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice

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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid β-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 °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. © 2005 Tolwani et al.




Tolwani, R. J., Hamm, D. A., Tian, L., Sharer, J. D., Vockley, J., Rinaldo, P., … Wood, P. A. (2005). Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. PLoS Genetics, 1(2), 0205–0212.

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