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

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

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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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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Tolwani, RJ
Hamm, DA
Tian, L
Sharer, JD
Vockley, Jgev1@pitt.eduGEV10000-0002-8180-6457
Rinaldo, P
Matern, D
Schoeb, TR
Wood, PA
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: 22 Jun 2021 15:55
URI: http://d-scholarship.pitt.edu/id/eprint/12831

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