Chemical compositional studies of erythrocyte membranes in Duchenne muscular dystrophy.
Erythrocytes from patients with Duchenne muscular dystrophy (DMD) are known to possess a number of structural and functional abnormalities, including an increased osmotic fragility and potassium permeability, a decreased deformability and altered electrophoretic behaviour. To explore the possible chemical basis of these changes, the compositional properties of erythrocyte membranes from patients with DMD and a number of suspected carriers for this disorder have been investigated. Quantitative analyses of membrane cholesterol, sialic acid and major phospholipid classes were normal in both groups of individuals and no alterations in the arrangement of membrane amino and sulfhydryl groups could be detected. It is suggested that increased levels of cellular calcium, possibly occurring as the result of a defect in active calcium extrusion, could account for the structural and functional abnormalities of erythrocytes in DMD.
D000293:Adolescent; D001798:Blood Proteins / Q000032:analysis; D055598:Chemical Phenomena; D002621:Chemistry; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D004910:Erythrocyte Membrane / Q000032:analysis*; D004912:Erythrocytes / Q000032:analysis*; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000097:blood*; D009996:Osmotic Fragility; D010743:Phospholipids / Q000097:blood; D012794:Sialic Acids / Q000097:blood; D013438:Sulfhydryl Compounds / Q000097:blood
D001798:Blood Proteins; D010743:Phospholipids; D012794:Sialic Acids; D013438:Sulfhydryl Compounds; D002784:Cholesterol