Gepubliceerd in:

01-02-2013

Phenotyping a new mitochondrial fatty acid oxidation deficient mouse model

Auteurs: E.F. Diekman, M. Weeghel, R.J. Wanders, G. Visser, S.M. Houten

Gepubliceerd in: Tijdschrift voor Kindergeneeskunde | bijlage 1/2013

Extract

Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid (FAO) beta-oxidation. Patients present with hypoglycaemia, hepatomegaly, cardiomyopathy and myopathy. Although the phenotype of the LCAD KO mouse closely resembles the phenotype in humans, this mouse model does not have myopathy. As mice have two enzymes for degradation of long-chain fatty acids (LCAD and VLCAD), we hypothesised that a model in which one VLCAD allele is deleted in the LCAD KO mouse might have myopathy. LCAD/VLCAD double KO mice are not viable [Cox 2001]. Our objective was therefore to phenotype the LCAD-/-; VLCAD+/- mouse model. …

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