Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1. Developmental enzyme alterations were investigated in skeletal muscle of the hereditary progressive muscular dystrophy (PMD) mice of C57BL/6J strain. 2. Enzymes examined were classified into three groups according to changes of activities in dystrophy muscle during ageing. Activities of creatine kinase (EC 2.7.3.2), pyruvate kinase (EC 2.7.1.40), glycogen phosphorylase (EC 2.4.1.1), and fructose-biphosphate aldolase (EC 4.1.2.13), each of which had the respective muscle specific isoenzyme of extremely high activity in normal adult skeletal muscle, decreased rapidly in dystrophy muscle from the early stage of the disease with ageing. Activities of glycogen synthase (EC 2.4.1.11) and hexokinase (EC 2.7.1.1) were higher in dystrophy muscle in the early stage but decreased gradually to lower levels than those in the control with ageing. Activities of glucose-6-phosphate dehydrogenase (EC 1.1.1.49) were always much higher in dystrophy muscle than in the control, with no relation to ageing. 3. Isoenzymes of creatine kinase, pyruvate kinase and phosphorylase in dystrophy muscle were mainly the muscle types, indicating that muscle differentiation was not blocked profoundly even in dystrophy muscle. In limited cases, especially in the early stage of the disease, very weak activities of the non-muscle fetal type isoenzymes of creatine kinase and phosphorylase were detected, apparently associated with partial muscle regeneration in dystrophy muscle.
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PMID:Enzyme alteration in skeletal muscle of mice with muscular dystrophy. 41 23

Allosterism allows individual assay of both isoenzymes, one abundant in muscle, of pyruvate kinase (PK), recently reported superior to serum creatine phosphokinase (CPK) in detecting patients with and female carriers of X-linked recessive (Duchenne) muscular dystrophy (DMD). Extensive comparative studies did not support these findings and confirmed the marked superiority of CPK over rariants of PK or other enzymes in sensitivity, stability and convenience. Deducting the adenylate kinase increment (AKI) further refined the CPK assay, eliminating the effect of haemolysis in diagnosis and enabling studies of blood cell content. Both leucocytes and erythrocytes liberated PK and lactate dehydrogenase (LDH) after brief chilling or disruption. Only erythrocytes showed a CPK content, however, constantly adjusted to match that of serum as if by free cell membrane passage, but less accomodating to a sudden large influx of CPK than of LDH, where an apparent buffering effect could account for differences in clinical response.
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PMID:Carrier detection in X-linked recessive (Duchenne) muscular dystrophy: pyruvate kinase isoenzymes and creatine phosphokinase in serum and blood cells. 88 69

Changes in muscle proteins in serum after exercise were studied to evaluate the use of such proteins as indicators of increased muscle membrane vulnerability. Seventy-one women were asked to perform bicycle exercise for 45 min at a moderate load; four proteins (creatine kinase - CK, myoglobin - Mb, aldolase - Ald and pyruvate kinase - PK) were measured in serum up to 24 h after exercise. Twenty-one women were carriers of Duchenne's muscular dystrophy (DMD); these are known to show an elevated serum CK activity at rest, as well as increased CK response after exercise. Fifty women without a family history of neuromuscular disease were tested to obtain normal values: they showed a small peak (18%) of CK activity 8 h after exercise, and an even smaller peak of Mb (9%) 1 h after exercise. The mean post-exercise increase for both CK and Mb in the 21 DMD carriers was significantly higher than in controls; the maximum of Mb, on average 70% of baseline levels, was reached 1 h after exercise and was higher than that for CK (48%), which was reached 8 h after exercise. It is concluded that myoglobin levels after exercise are a good index of increased vulnerability of the muscle membrane.
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PMID:Myoglobin is a sensitive marker of increased muscle membrane vulnerability. 239 44

An X chromosome-linked mouse mutant (gene symbol, mdx) has been found that has elevated plasma levels of muscle creatine kinase and pyruvate kinase and exhibits histological lesions characteristic of muscular dystrophy. The mutants show mild clinical symptoms and are viable and fertile. Linkage analysis with four X chromosome loci indicates that mdx maps in the Hq Bpa region of the mouse X chromosome. This gives a gene order of mdx-Tfm-Pgk-1-Ags, the same as for the equivalent genes on the human X chromosome.
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PMID:X chromosome-linked muscular dystrophy (mdx) in the mouse. 658 3

Serum pyruvate kinase and creatine kinase activities were measured in a group of patients with various neuromuscular diseases and in carriers of muscular dystrophy. Elevated values of PK were usually but not invariably associated with elevated levels of CK. THe data showed that PK activity was elevated in all patients with DMD, high values generally correlating inversely with age or disease duration. In definite carriers, the level of PK was raised simultaneously with CK, while in potential carriers, classified by their relationship with MD patients in mothers, sisters and other relatives, the PK levels were elevated in 23%, 44% and 10% respectively, indicating especially for sisters, an increased genetic probability of being a definite carrier. In this way, we have confirmed that the serum PK assay is more sensitive in younger subjects and that combined CK and PK measurement will be of value in detecting a higher proportion of potential carriers.
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PMID:Serum pyruvate kinase in different neuromuscular diseases and in carriers of muscular dystrophy. 667 40

X-linked muscular dystrophy is a highly progressive disease of childhood and characterized by primary genetic abnormalities in the dystrophin gene. Senescent mdx specimens were used for a large-scale survey of potential age-related alterations in the dystrophic phenotype, because the established mdx animal model of dystrophinopathy exhibits progressive deterioration of muscle tissue with age. Since the mdx tibialis anterior muscle is a frequently used model system in muscular dystrophy research, we employed this particular muscle to determine global changes in the dystrophic skeletal muscle proteome. The comparison of mdx mice aged 8 weeks versus 22 months by mass-spectrometry-based proteomics revealed altered expression levels in 8 distinct protein species. Increased levels were shown for carbonic anhydrase, aldolase, and electron transferring flavoprotein, while the expressions of pyruvate kinase, myosin, tropomyosin, and the small heat shock protein Hsp27 were found to be reduced in aged muscle. Immunoblotting confirmed age-dependent changes in the density of key muscle proteins in mdx muscle. Thus, segmental necrosis in mdx tibialis anterior muscle appears to trigger age-related protein perturbations due to dystrophin deficiency. The identification of novel indicators of progressive muscular dystrophy might be useful for the establishment of a muscle subtype-specific biomarker signature of dystrophinopathy.
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PMID:Profiling of age-related changes in the tibialis anterior muscle proteome of the mdx mouse model of dystrophinopathy. 2309 55