Spectrin extractability from erythrocytes in Duchenne muscular dystrophy patients and carriers and in other myopathies.
Spectrin extractability was measured in the erythrocyte membranes from patients with Duchenne Muscular Dystrophy (DMD), from DMD definite carriers (in whom serum creatine kinase (CK) was also measured) and patients affected by other myopathies. After the extraction of spectrin from ghosts with EDTA, membrane proteins were examined using sodium dodecyl sulfate-polyacrylamide gel electrophoresis. Spectrin extractability was also investigated in the presence of an excess of calcium. Spectrin extraction from erythrocyte ghosts was significantly reduced with respect to controls in DMD patients, in DMD definite carriers and in patients affected by limb-girdle dystrophy, but not in patients suffering from other non-dystrophic myopathies. Fifty percent of DMD definite carriers showed a reduced extraction of spectrin and some of them had normal serum CK. Reduced extractability was also observed in red blood cells incubated in media containing excess calcium. Our results could suggest that reduced spectrin extractability is connected with a modification of intracellular calcium levels.
D000293:Adolescent; D000328:Adult; D002118:Calcium / Q000097:blood; D002648:Child; D002675:Child, Preschool; D004910:Erythrocyte Membrane / Q000032:analysis*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000097:blood* / Q000235:genetics; D013049:Spectrin / Q000302:isolation & purification*
D013049:Spectrin; D002118:Calcium