Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse

Pediatr Res. 1992 Jun;31(6):552-6. doi: 10.1203/00006450-199206000-00003.

Abstract

BALB/cByJ (J) mice have short-chain acyl-CoA dehydrogenase (SCAD) deficiency and an organic aciduria similar to that of human SCAD deficiency. [9,10(n)-3H]- and [15,16(n)-3H]palmitate oxidations in J mouse fibroblasts were 96 and 35% of control, respectively, consistent with an isolated SCAD defect. Acyl-CoA dehydrogenase activities were assayed in muscle and fibroblast mitochondria from BALB/cBy controls (Y) and SCAD-deficient J mice. Medium-chain acyl-CoA dehydrogenase (MCAD) activities were comparable in both J and Y mice from all tissues. In the presence of MCAD antiserum, SCAD activities in J mice were undetectable in both tissues. Apparent Km and Vmax values in liver mitochondria suggested a somewhat increased affinity of MCAD for butyryl-CoA in J mice, as compared with MCAD from other species. Immunoblot studies using mitochondria revealed identical apparent SCAD molecular weight in liver, muscle, and fibroblasts from Y mice and no detectable SCAD antigen in J mice; MCAD antigen was detected in comparable amounts from both Y and J mice. Radiolabeling and immunoprecipitation studies in J mouse fibroblasts revealed no SCAD synthesis, but normal MCAD synthesis. These data argue against the existence of tissue-specific SCAD isoforms in the mouse and confirm that this mouse strain is a model for the human organic aciduria resulting from this beta-oxidation defect.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acyl-CoA Dehydrogenase
  • Acyl-CoA Dehydrogenases / deficiency*
  • Acyl-CoA Dehydrogenases / genetics
  • Acyl-CoA Dehydrogenases / immunology
  • Acyl-CoA Dehydrogenases / metabolism
  • Animals
  • Antigens / analysis
  • Fibroblasts / enzymology
  • Immunochemistry
  • Kinetics
  • Liver / enzymology
  • Mice
  • Mice, Inbred BALB C
  • Mice, Mutant Strains
  • Muscles / enzymology
  • Tissue Distribution

Substances

  • Antigens
  • Acyl-CoA Dehydrogenases
  • Acyl-CoA Dehydrogenase