Diphenoloxidases in X-linked recessive (Duchenne) muscular dystrophy |
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Authors: | Jean J Demos David G Tuil Pierre C Katz Monique A Berthelon Brigitte Dautreaux Nicole Premont |
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Institution: | (1) Unite de Recherches sur la Myopathie INSERM (U 193) 12, rue Louis Braille, F-77100 Meaux, France |
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Abstract: | Summary In extracts derived from whole blood, a high molecular weight fraction of the diphenoloxidase enzymes has a significantly diminished specific activity in patients and definite carriers (heterozygotes) of the X-linked, recessive (Duchenne) form of muscular dystrophy. This anomaly was studied using spots of blood which had been collected on absorbent paper and stored at 4°C for variable periods of time. Fractions enriched in the enzymes were obtained by subjecting aqueous extracts of the spots to treatment with an anion exchange resin (DEAE Sephadex A 50) followed by gel filtration on Sephadex G-25. It is of interest that this anomaly was observed in some definite carriers of the mutant gene who had had on several occasions a serum creatine kinase level in the normal range. The significance of these observations is discussed. |
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