Transport enzymes in the cell membranes of cultured fibroblasts; alterations in dystrophic cells.
In support of the widely held belief that membrane defects are present in the muscular dystrophies, alterations have been found in some transport-related enzymes of cells from affected donors. Cell membranes were isolated from cultured dermal fibroblasts of victims of myotonic muscular dystrophy, and of Duchenne's muscular dystrophy, and from cells of normal age- and sex-matched donors. Myotonic cells had an elevated Na+, K+ ATPase. gamma-Glutamyl transpeptidase was elevated in Duchenne cells. Among all cells' 5'nucleotide phosphatase exhibited a remarkably constant specific activity.
Mokrasch
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D015720:5'-Nucleotidase; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D017301:Ca(2+) Mg(2+)-ATPase; D000252:Calcium-Transporting ATPases / Q000378:metabolism; D002462:Cell Membrane / Q000201:enzymology*; D002478:Cells, Cultured; D002648:Child; D005347:Fibroblasts / Q000166:cytology*; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000201:enzymology*; D009708:Nucleotidases / Q000378:metabolism; D000254:Sodium-Potassium-Exchanging ATPase / Q000378:metabolism; D005723:gamma-Glutamyltransferase / Q000378:metabolism
D005723:gamma-Glutamyltransferase; D009708:Nucleotidases; D015720:5'-Nucleotidase; D000251:Adenosine Triphosphatases; D017301:Ca(2+) Mg(2+)-ATPase; D000252:Calcium-Transporting ATPases; D000254:Sodium-Potassium-Exchanging ATPase