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

Yasuyuki Ikeda, Daniel E. Hale, Susan M. Keese, Paul M. Coates, Kay Tanaka

Resultado de la investigación: Articlerevisión exhaustiva

35 Citas (Scopus)

Resumen

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.

Idioma originalEnglish (US)
Páginas (desde-hasta)843-847
Número de páginas5
PublicaciónPediatric Research
Volumen20
N.º9
DOI
EstadoPublished - sept. 1986
Publicado de forma externa

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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