ABSTRACT
Calcium activated neutral protease (milli- and micro-forms) and its endogenous inhibitor have been quantified in muscle from Duchenne muscular dystrophy (DMD) patients. The specific activities of both the enzymes are found to be significantly elevated. Some of the properties studied indicate that the enzymes from DMD and normal are not qualitatively different. The ratios of milli- to micro-enzyme in normal and disease state suggest that these enzymes have independent roles to play. The absence of a significant increase in the level of the endogenous inhibitor is probably indicative of its mode of regulation, in disease condition.
Subject(s)
Calpain/analysis , Glycoproteins/analysis , Muscles/enzymology , Muscular Dystrophies/enzymology , Adolescent , Child , Child, Preschool , Humans , Isoenzymes/analysis , Muscles/analysisABSTRACT
Calcium-activated neutral protease (CANP) has been purified from its endogenous inhibitor and its activity is monitored in the muscle of Duchenne Muscular Dystrophy (DMD) patients. The specific activity of the enzyme is found to be significantly higher as compared to normal. CANP from platelets of DMD patients is significantly higher as compared to activities in other myopathies and controls. Platelet CANP, therefore, may prove to be an index of pathological condition in DMD, since other myopathies do not show such a significant change.
Subject(s)
Blood Platelets/enzymology , Endopeptidases/metabolism , Muscles/enzymology , Muscular Dystrophies/enzymology , Adolescent , Aging , Calpain , Child , Creatine Kinase/metabolism , Endopeptidases/blood , Humans , L-Lactate Dehydrogenase/metabolism , Pyruvate Kinase/metabolismABSTRACT
We report a unique case of a 46-year-old female who had signs of Duchenne-like muscular dystrophy on clinical, electromyographic, and laboratory investigation. A brother, sister, maternal uncle, and her own son also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both the X chromosomes to be morphologically normal. We discuss different hypothetical mechanisms to account for the family pedigree.
