Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency

Pediatric Research
Y IkedaK Tanaka

Abstract

We prepared monospecific antiserum in rabbits against medium chain acyl-CoA dehydrogenase (MCAD) purified from rat liver and studied the biosynthesis of MCAD in cultured skin fibroblasts from patients with MCAD deficiency using the antibody. Cells were incubated with [35S]methionine. The labeled MCAD was immunoprecipitated using the anti-rat MCAD antiserum and Staphylococcus aureus cells and then analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. We first demonstrated that antirat MCAD antibody crossreacted specifically with human MCAD. In 13 MCAD-deficient cell lines tested, the residual MCAD activity ranged from 5-12% of the mean of normal controls, but the variant MCAD in all of these cells was indistinguishable from the normal human MCAD on the basis of molecular size, indicating that MCAD deficiency in all of these patients is most likely due to point mutation(s) in the MCAD gene.

Citations

Jan 1, 1987·Journal of Inherited Metabolic Disease·C Vianey-LiaudM Mathieu
Mar 1, 1992·European Journal of Pediatrics·Y MatsubaraK Tada
Jun 14, 1991·Clinica Chimica Acta; International Journal of Clinical Chemistry·K E Niezen-KoningR Berger
Jun 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·D P KellyA W Strauss
Mar 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·W A FentonL E Rosenberg
Dec 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·D P KellyA W Strauss
Dec 1, 1991·Biochemical Medicine and Metabolic Biology·I OgilvieD M Turnbull
Mar 14, 2013·Molecular Genetics and Metabolism·Manuel SchiffJerry Vockley
Aug 31, 1990·Biochemical and Biophysical Research Communications·Y MatsubaraC R Roe
Jan 1, 1992·Human Mutation·K TanakaD Curtis

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