Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.

ABSTRACT: Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive inborn error of metabolism that leads to the impaired mitochondrial fatty acid β-oxidation of short chain fatty acids. It is heterogeneous in clinical presentation including asymptomatic in most patients identified by newborn screening. Multiple mutations have been identified in patients; however, neither clear genotype-phenotype relationships nor a good correlation between genotype and current biochemical markers for diagnosis has been identified. The definition and pathophysiology of this deficiency remain unclear. To better understand this disorder at a global level, quantitative alterations in the mitochondrial proteome in SCAD deficient mice were examined using a combined proteomics approach: two-dimensiona

SUBMITTER: Wang W 

PROVIDER: S-EPMC4167795 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature