| First Author | Tolwani RJ | Year | 2005 |
| Journal | PLoS Genet | Volume | 1 |
| Issue | 2 | Pages | e23 |
| PubMed ID | 16121256 | Mgi Jnum | J:115759 |
| Mgi Id | MGI:3692159 | Doi | 10.1371/journal.pgen.0010023 |
| Citation | Tolwani RJ, et al. (2005) Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. PLoS Genet 1(2):e23 |
| abstractText | 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. |
