ABSTRACT
Calcium and calcium dependent enzymes viz., calcium ATPase, protein kinase C and calcium activated neutral protease (milli CANP mCANP) were studied in the erythrocytes, platelets and lymphocytes of obligate carriers, in order to assess the usefulness of these indices for detection of carriers for Duchenne muscular dystrophy (DMD). With the exception of mCANP and lymphocyte calcium ATPase, other calcium dependent enzyme activities showed considerable overlap between carriers and control. Since the increase in the level of platelet mCANP was found in all affected boys (no false negatives) and obligate carriers, and patients with other myopathic conditions and some neurogenic causes did not show high platelet mCANP activity, this parameter could be considered as a good phenotypic index. Unlike SCK, the platelet mCANP of carriers did not overlap that of controls, hence tests are to be carried out to verify its usefulness as an index of carrier state in mutations other than DNA deletion since testing of non-deletion is both costly and has practical limitations.
Subject(s)
Adult , Calcium/blood , Calcium-Transporting ATPases/blood , Calpain/blood , Erythrocytes/chemistry , Heterozygote , Humans , Male , Muscular Dystrophies/genetics , Protein Kinase C/bloodABSTRACT
Translocation of calcium activated neutral proteinase from cytosol to plasma membrane, concurrently with decrease in the activity of membrane bound Ca2+/Mg2+ ATPase has been detected in diabetic polymorphonuclear leucocytes. Plausible involvement of the extralysosomal proteinase in the derangement of the Ca2+/Mg2+ ATPase is indicated by non restoration of the enzyme activity on treatment with activators such as trypsin or calmodulin and enhanced membrane translocation of the proteinase observed with concomitant decrease in the activity of Ca2+/Mg2+ ATPase in normal neutrophils on insult with diabetic serum factor.
Subject(s)
Adult , Ca(2+) Mg(2+)-ATPase/blood , Calpain/blood , Diabetes Mellitus, Type 2/enzymology , Female , Humans , Male , Middle Aged , Neutrophils/enzymologyABSTRACT
As blood cells such as platelets, lymphocytes and erythrocytes from patients with Duchenne muscular dystrophy show evidence of membrane alterations and elevation of intra-cellular calcium, one of the calcium related changes i.e., the activity of calcium activated neutral protease (CANP) was monitored and found to be elevated in erythrocytes, lymphocytes and platelets. As similar changes were observed in platelets of carriers of this disease, CANP in platelets may serve as a useful index for carrier detection.