Ribosomal protein synthesis in cultured skin fibroblast cells obtained from patients with Duchenne muscular dystrophy.
Ribosomes and ribosomal subunits were extracted from cultured skin fibroblasts from patients with Duchenne muscular dystrophy (DMD). A poly(U)-directed polyphenylalanine synthesis system was used to test 80S ribosomes from DMD cells and normal controls as well as hybrid 80S couples of subunits from DMD cells and control cells. The activity of ribosomes extracted from the patients was 38-62% lower than that of normal controls. Of the 80S hybrid ribosomes, only those consisting of 40S subunits from DMD cells and 60S subunits from the control cells, showed a similar decrease in activity. That means that the defect is exclusively based on an alteration in the small ribosomal subunit.
D000293:Adolescent; D000818:Animals; D002478:Cells, Cultured; D002648:Child; D005347:Fibroblasts; D006801:Humans; D009124:Muscle Proteins / Q000096:biosynthesis; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000378:metabolism*; D009137:Muscular Dystrophy, Animal / Q000378:metabolism; D012269:Ribosomal Proteins / Q000096:biosynthesis*; D012270:Ribosomes / Q000378:metabolism*; D012867:Skin; D013577:Syndrome
D009124:Muscle Proteins; D012269:Ribosomal Proteins