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

The effect of the cathepsin B inhibitor chymostatin was studied in mice with an X chromosome-linked muscular dystrophy. Treatment for 7 weeks at a daily dose of 1 microgram/g body weight had no apparent beneficial effect: serum creatine kinase levels, histopathology and the activity of muscle cathepsin B were not significantly altered by the treatment.
 ...
PMID:Chymostatin has no apparent beneficial effect on muscular dystrophy in the mdx mouse. 337 49

The human chromosomal assignments of genes of the creatine kinase (CK) family--loci for brain (CKBB), muscle (CKMM), and mitochondrial (CKMT) forms--were studied by Southern filter hybridization analysis of DNAs isolated from a human x rodent somatic cell hybrid clone panel. Probes for the 3'-noncoding sequences of human CKBB and CKMM hybridized concordantly only to DNAs from somatic cell hybrids containing chromosomes 14 and 19, respectively. Thus the earlier assignment of the gene coding for the CKBB isozyme to chromosome 14 was confirmed by molecular means, as was the provisional assignment of CKMM to the long arm of chromosome 19. A probe containing canine sequences for CKMM cross-hybridized with human sequences on chromosomes 14 and 19, a result consistent with the assignments of CKBB and CKMM. A probe containing human sequences for CKMT enabled the provisional assignment of CKMT to human chromosome 15. Independent hybrids with portions of the long arm of chromosome 19 missing indicated the order of genes on the long arm of chromosome 19 as being cen-GPI-(TGFB, CYP1)-[CKMM, (APOC2-ERCC1)]-(CGB, FTL). The unexpectedly more distal location of APOC2 among the genes on the long arm--and APOC2's close association with CKMM--is discussed with respect to the close linkage relationship of APOC2 to myotonic muscular dystrophy.
 ...
PMID:Human creatine kinase genes on chromosomes 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair. 340 Jun 41

The natural variability of plasma creatine kinase activity has been examined in patients suffering from muscular dystrophy and in normal subjects. The coefficient of variation of the plasma creatine kinase activities was found to be large (approximately 35%) in both patients with Duchenne muscular dystrophy and normal control subjects. A comparison of the plasma activities of creatine kinase with other muscle-derived enzymes suggests that the cause of this variability is changes in the release of enzymes from muscle. Data obtained concerning the effect of physical activity on plasma creatine kinase activity are contradictory, but several young patients with Duchenne muscular dystrophy and a very high creatine kinase activity (greater than 5000 IU/liter) showed a decreased activity following admission to hospital. An estimate of the rate of efflux of certain kinase from muscle has been made, indicating that young ambulant patients with Duchenne muscular dystrophy have a grossly elevated muscle creatine kinase efflux (495.0 +/- 61.3 IU/kg muscle/hr) compared to control subjects (1.4 +/- 0.5 IU/kg muscle/hr).
 ...
PMID:An examination of some factors influencing creatine kinase in the blood of patients with muscular dystrophy. 356 34

We performed genetic analyses for the prenatal diagnosis of Duchenne's muscular dystrophy and detection of the carrier state in five families with seven pregnancies at risk for the disease. As genetic markers for the disorder, we used DNA-sequence polymorphisms detected with 12 different DNA probes derived from the vicinity of the Duchenne's muscular dystrophy locus or from within the gene, on the X chromosome. One male fetus of a proved carrier mother was predicted to be unaffected, and this was confirmed after birth. Another male fetus was predicted to be unaffected (probability, 95 percent or greater), although a crossover event had been identified in a region of the X chromosome thought to be distal to the Duchenne gene. Unfortunately, an elevated serum creatine kinase level after birth indicated that the infant had inherited the Duchenne mutation. Three male fetuses predicted to be affected with 66 percent or 95 percent probabilities were aborted, and the presence of the DNA-marker alleles was confirmed in fetal tissues. In one family, in which the maternal grandparents were unavailable, the initial genetic interpretation had to be revised after a second male fetus was analyzed with intragenic probes. Our experience suggests that despite the large number of intragenic and flanking DNA polymorphisms available, uncertainties often remain in the prenatal diagnosis of Duchenne's muscular dystrophy. Pitfalls are presented by the large size of the region in which Duchenne's mutations can occur. Crossover events in this region, which result in an exchange of DNA between two X chromosomes, can render DNA-marker studies inaccurate. Also, an autosomal recessive mutation can produce the same clinical picture.
 ...
PMID:Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. 356 54

Two brothers and an unrelated man had serum creatine kinase values of 3000-8000 units when they were asymptomatic, and there was no weakness on examination. EMG and muscle biopsy showed changes indicative of myopathy. Years later, all three developed weakness that was limited to the gastrocnemius. Because siblings were affected, the disorder can be regarded as a form of muscular dystrophy. The distribution of weakness, serum enzyme changes, and histologic changes resembled an autosomal recessive distal myopathy first described by Miyoshi and differed from many other reported cases of distal myopathy. Our cases also indicate that myopathy may be asymptomatic.
 ...
PMID:High serum levels of creatine kinase: asymptomatic prelude to distal myopathy. 358 69

Serotonin (5-HT) uptake was studied in the blood platelets of 10 patients with Duchenne-type muscular dystrophy (DMD) and 7 age-matched controls. Vmax (maximum number of uptake sites) of platelet 5-HT uptake in the DMD patients was significantly less than that of the normal controls. There was no difference in the affinity for 5-HT (Km) between the two groups. There was a significant negative correlation between serum creatine kinase activity and Km of 5-HT uptake in blood platelets of these patients. However, no correlation was found between Km or Vmax and ambulatory status of DMD.
 ...
PMID:Serotonin uptake in blood platelets of Duchenne muscular dystrophy patients. 358 71

Dimethyl-4, 4'-dimethoxy-5, 6, 5'-6'-dimethylenedioxybiphenyl-2, 2'-dicarboxylate (DDB) is a synthetic analogue of Schizandrin C, an active compound isolated from a Chinese herb, Fructus schizandrae. We administered this compound to dystrophic hamsters in vivo for 31 days. This led to a 61% reduction of the calcium content, an 86% reduction of the area of calcium deposits, and a 52% reduction of the area of necrosis of cardiac muscle. However, skeletal muscle necrosis was not significantly improved. No clear change in plasma creatine kinase (CK) was observed. In an in vitro incubation study, the rate of CK release and tetanus tension of the extensor digitorum longus muscle of dystrophic hamsters were not substantially changed by the addition of DDB. This study suggests that DDB has some effect on cardiac necrosis, and that it might be useful for treatment of the cardiac involvement in patients with muscular dystrophy or other conditions with accompaning Ca accumulation.
 ...
PMID:The effect of DDB on dystrophic hamsters: an in vivo and in vitro study. 361 53

The clinical and morphological features of a congenital myopathy in a young male golden retriever dog were studied. Muscle biopsies at 4 and 8 months of age were examined with light and electron microscopy. Clinical features included early onset of generalized muscle weakness with selective muscle atrophy and hypertrophy, splaying of the limbs, stiff gait, and marked elevation of serum creatine kinase (CK). An electromyograph revealed spontaneous electrical activity characterized by sustained high-frequency activity, which was not abolished by neuromuscular blockade. Morphologically there was marked hypercontraction and segmental necrosis of muscle fibers with phagocytosis and regeneration. Ultrastructurally, dilatation of sarcoplasmic reticulum was the most consistent feature associated with early fiber degeneration. No abnormalities were noted in the central or peripheral nervous system. Progression of the disease was evident at 8 months. It was concluded that the findings are consistent with a dystrophic process of primary muscle origin. The probable genetics and comparison to other animal models of muscular dystrophy and to Duchenne dystrophy are discussed.
 ...
PMID:Progressive muscular dystrophy in a golden retriever dog: light microscope and ultrastructural features at 4 and 8 months. 379 43

Serum carbonic anhydrase III (CA-III) levels were determined by means of an enzyme immunoassay method and compared with serum creatine kinase (CK) and muscle-specific enolase (MSE) levels in 143 patients with four types of progressive muscular dystrophy (PMD), namely, Duchenne muscular dystrophy (DMD), limb-girdle dystrophy, facioscapulohumeral dystrophy and congenital dystrophy. Serum CA-III levels were raised in the majority of patients, especially in those with DMD. In DMD patients, the gradual decline in the CA-III level was observed with age. High correlations were found between CA-III, CK and MSE levels. The frequency of cases with elevated CA-III levels was the same as or greater than that of elevated CK or MSE levels in four types of PMD. These results suggest that serum CA-III may be a useful marker of muscle disease.
 ...
PMID:Serum carbonic anhydrase III in progressive muscular dystrophy. 392 Mar 57

A radioimmunosorbent technique was used for the assay of the skeletal muscle specific enzyme, carbonic anhydrase III (CA III). The usefulness of serum CA III determinations for detecting skeletal muscle damage was evaluated by comparing the serum levels of this enzyme and of myoglobin and creatine kinase in 64 patients with neuromuscular disorders and in 13 healthy volunteers before and after a long-distance run. Increased serum CA III levels were found in all patients with muscular dystrophy, chronic polymyositis and amyotrophic lateral sclerosis and in many with myasthenia gravis. In patients with polymyositis who were followed up with repeated blood sampling, the time courses of serum CA III levels, myoglobin levels and clinical symptoms were closely related. In all the runners the serum CA III level immediately after the run was increased. In the present study serum CA III and myoglobin seemed to be equally sensitive as biochemical markers of muscular damage and more sensitive than creatine kinase.
 ...
PMID:Serum carbonic anhydrase III in neuromuscular disorders and in healthy persons after a long-distance run. 393 1


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>