Detection of carriers and genetic counseling in duchenne muscular dystrophy by ribosomal protein synthesis.
The in vitro protein synthesis by polyribosomes extracted from biopsied muscle (vastus lateralis) was studied in 47 known carriers, 87 possible carriers and in 60 normal females. A significant increase in specific activity of monomeric ribosomes, total polyribosomes and collagen synthesis was found in 46 (97.8 per cent) known carriers and 47 (54 per cent) possible carriers of Duchenne muscular dytrophy. The latter showed an increase in ribosomal protein synthesis in 10 (52.6 per cent) of 19 mothers of isolated cases, 31 (53.3 per cent) of 58 sisters, and 6 (60 per cent) of other female relatives. Serum creatine phosphokinase was increased in 30 (63.8 per cent) of 47 known carriers.
D000328:Adult; D000367:Age Factors; D003094:Collagen / Q000096:biosynthesis; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D012269:Ribosomal Proteins / Q000096:biosynthesis*; D012270:Ribosomes / Q000378:metabolism
D012269:Ribosomal Proteins; D003094:Collagen; D003402:Creatine Kinase