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)

We have examined the variation of creatinekinase levels (NAC-activated) with age in 170 children. The subjects included 40 neonates, 18 premature neonates, 40 small babies, 32 infants and 40 schoolchildren. The enzyme activity of CK-MM was very high in the first hours after delivery and remained high for a few days. The isoenzyme MB in healthy newborns also showed a higher catalytic concentration. These values (about 2-12 U/l) reached normal levels of adults within 4 months of life (0.5-5 U/l). The same rule applied to CK-MM: enzyme activities of 160 U/l and more in the first days of life declined to 16-75 U/l during the first 4 months. No correlation between birth trauma and the increase in serum-CK was found. Because of the increased CK-MM (and CK-MB) found in normal newborns screening for Duchenne-type muscular dystrophy should be postponed for a few weeks after delivery. In view of the relatively high endogenous serum CK-MB in the neonates (release of CK-MB from the skeletal muscle) the test lacks the specificity for cardiac damage. Intramuscular injections of several drugs lead to a distinct increase in CK activity. A rise of CK-MM was seen 4-24 h after catheterization of the heart.
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PMID:[N-acetyl-cystein-(NAC)-activated creatinkinase (CK) and isoenzyme CK-MB in the serum of children]. 663 40

Dysferlinopathy is an autosomal recessive muscular dystrophy resulting from mutations in the dysferlin gene. Absence of dysferlin in the sarcolemma and progressive muscle wasting are hallmarks of this disease. Signs of oxidative stress have been observed in skeletal muscles of dysferlinopathy patients, as well as in dysferlin-deficient mice. However, the contribution of the redox imbalance to this pathology and the efficacy of antioxidant therapy remain unclear. Here, we evaluated the effect of 10 weeks diet supplementation with the antioxidant agent N-acetylcysteine (NAC, 1%) on measurements of oxidative damage, antioxidant enzymes, grip strength and body mass in 6 months-old dysferlin-deficient Bla/J mice and wild-type (WT) C57 BL/6 mice. We found that quadriceps and gastrocnemius muscles of Bla/J mice exhibit high levels of lipid peroxidation, protein carbonyls and superoxide dismutase and catalase activities, which were significantly reduced by NAC supplementation. By using the Kondziela's inverted screen test, we further demonstrated that NAC improved grip strength in dysferlin deficient animals, as compared with non-treated Bla/J mice, without affecting body mass. Together, these results indicate that this antioxidant agent improves skeletal muscle oxidative balance, as well as muscle strength and/or resistance to fatigue in dysferlin-deficient animals.
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PMID:N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient Bla/J Mice. 3256 Feb 55