Decrease in the rate of protein synthesis by polysomes from cultured fibroblasts of patients and carriers with Duchenne muscular dystrophy.
Polysomes extracted from cultured fibroblast cells isolated from patients with Duchenne muscular dystrophy (DMD), carriers of the disease, and normal controls were used for in vitro measurement of protein synthesis in a wheat germ extract system. It was observed that polysomes from patients and carriers (seven of each aged 17 years or older) exhibited a 3-fold and a 1.5-fold decrease in the rate of protein synthesis, respectively, as compared with controls. These results are discussed with a view to developing a sensitive and easily available assay for the detection of DMD carriers.
D000293:Adolescent; D000328:Adult; D005347:Fibroblasts / Q000378:metabolism*; D006580:Genetic Carrier Screening / Q000379:methods; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D011132:Polyribosomes / Q000378:metabolism; D014176:Protein Biosynthesis; D012867:Skin / Q000378:metabolism*