Tolwani, RJ and Hamm, DA and Tian, L and Sharer, JD and Vockley, J and Rinaldo, P and Matern, D and Schoeb, TR and Wood, PA
(2005)
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice.
PLoS Genetics, 1 (2).
0205 - 0212.
ISSN 1553-7390
Abstract
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.
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| Item Type: |
Article
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| Status: |
Published |
| Creators/Authors: |
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| Date: |
1 December 2005 |
| Date Type: |
Publication |
| Journal or Publication Title: |
PLoS Genetics |
| Volume: |
1 |
| Number: |
2 |
| Page Range: |
0205 - 0212 |
| DOI or Unique Handle: |
10.1371/journal.pgen.0010023 |
| Refereed: |
Yes |
| ISSN: |
1553-7390 |
| PubMed ID: |
16121256 |
| Date Deposited: |
11 Jul 2012 17:50 |
| Last Modified: |
04 Feb 2023 11:55 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/12831 |
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