Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle's disease.
(1) Two unrelated cases of McArdle's disease (glycogen storage disease type V, deficiency in muscle-type glycogen phosphorylase, EC.2.4.1.1) with no detectable inactive protein, and two heterozygous relatives of one patient, have been investigated for the presence or absence of functional messenger RNA. Methods were developed and scaled down to be compatible with clinical-size biopsies. (2) Total muscle RNA was prepared and translated in a rabbit reticulocyte cell-free system. Neosynthesized products were isolated by immunoaffinity microchromatography. Phosphorylase was compared with control enzymes neosynthesized and purified under the same conditions. (3) No functional mRNA for phosphorylase could be detected in the muscles of the two patients. A decreased amount of messenger for phosphorylase, compared with the control enzymes, was found in the muscles of the two heterozygotes. (4) Exploration of functional messenger RNA in clinical enzymopathies should be readily adaptable to a number of enzymatic diseases.
D000293:Adolescent; D000328:Adult; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006008:Glycogen Storage Disease / Q000378:metabolism*; D006012:Glycogen Storage Disease Type V / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000096:biosynthesis; D009132:Muscles / Q000378:metabolism*; D006005:Phosphorylases / Q000172:deficiency* / Q000235:genetics; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism*
D009124:Muscle Proteins; D012333:RNA, Messenger; D006005:Phosphorylases