Targeted disruption of the peroxisomal thiolase B gene in mouse: a new model to study disorders related to peroxisomal lipid metabolism

Biochimie. 2004 Nov;86(11):849-56. doi: 10.1016/j.biochi.2004.09.028.

Abstract

The peroxisomal beta-oxidation system consists of four steps catalysed by three enzymes: acyl-CoA oxidase, 3-hydroxyacyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase (multifunctional enzyme) and thiolase. In humans, thiolase activity is encoded by one gene, whereas in rodents, three enzymes encoded by three distinct genes (i.e. thiolase A, thiolase B and SCP2/thiolase) catalyse the thiolase activity. So far, acyl-CoA oxidase- and multifunctional enzyme-deficient patients have been identified and knock-out mice for these genes have been produced. Conversely, no isolated thiolase-deficient patient has been found, and no thiolase (A or B)-deficient mice have been generated. Hence, to better understand the cause of isolated human thiolase deficiency, we disrupted the catalytic site of the mouse thiolase B by homologous recombination in order to analyse the phenotype of these thiolase B-deficient mice. Mice, made homozygous for the mutation, lack expression of thiolase B mRNA and are viable, fertile and healthy at birth. They exhibit no detectable phenotype defects and no compensation, rather a slight decrease in other peroxisomal thiolase (thiolase A and SCPx) mRNAs, was found.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / genetics
  • 3-Hydroxyacyl CoA Dehydrogenases / metabolism
  • Acetyl-CoA C-Acyltransferase / genetics*
  • Acetyl-CoA C-Acyltransferase / metabolism
  • Acyl-CoA Oxidase / genetics
  • Acyl-CoA Oxidase / metabolism
  • Animals
  • Disease Models, Animal*
  • Embryo, Mammalian / cytology
  • Gene Expression Regulation, Enzymologic
  • Humans
  • Hydro-Lyases / genetics
  • Hydro-Lyases / metabolism
  • Lipid Metabolism*
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Peroxisomal Disorders / genetics
  • Peroxisomal Disorders / metabolism*
  • Peroxisomes / enzymology
  • Peroxisomes / genetics*
  • Peroxisomes / metabolism*
  • Phenotype
  • RNA, Messenger / genetics
  • Stem Cells / cytology
  • Structure-Activity Relationship

Substances

  • RNA, Messenger
  • 3-Hydroxyacyl CoA Dehydrogenases
  • Acyl-CoA Oxidase
  • Acaa1b protein, mouse
  • Acetyl-CoA C-Acyltransferase
  • D-3-hydroxyacyl CoA dehydratase
  • Hydro-Lyases