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

Y. Ikeda, D. E. Hale, S. M. Keese, P. M. Coates, K. Tanaka

Research output: Contribution to journalArticle

34 Citations (Scopus)

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 cross-reacted 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.

Original languageEnglish (US)
Pages (from-to)843-847
Number of pages5
JournalPediatric Research
Volume20
Issue number9
StatePublished - 1986
Externally publishedYes

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Acyl-CoA Dehydrogenase
Fibroblasts
Immune Sera
Medium chain acyl CoA dehydrogenase deficiency
Antibodies
Point Mutation
Sodium Dodecyl Sulfate
Methionine
Staphylococcus aureus
Polyacrylamide Gel Electrophoresis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency. / Ikeda, Y.; Hale, D. E.; Keese, S. M.; Coates, P. M.; Tanaka, K.

In: Pediatric Research, Vol. 20, No. 9, 1986, p. 843-847.

Research output: Contribution to journalArticle

Ikeda, Y. ; Hale, D. E. ; Keese, S. M. ; Coates, P. M. ; Tanaka, K. / Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency. In: Pediatric Research. 1986 ; Vol. 20, No. 9. pp. 843-847.
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AU - Coates, P. M.

AU - Tanaka, K.

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