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)

Ultrastructural repair of the morphological damages produced in nutritional muscular dystrophy was studied by refeeding dystrophic rabbits with vitamin E. Weanling (1.2 kg body weight) rabbits were fed a vitamin E-deficient diet for 24 days. Half of this group was then sacrificed and the remainder was given an initial oral dose of 50 mg of DL-alpha-tocopherol acetate and a vitamin E supplemented diet for 28 days. Control animals were fed a vitamin E supplemented diet with 50 mg of DL-alpha-tocopherol acetate per kilogram of diet. Abnormalities of dystrophic muscles included streaming Z-disk, degenerated mitochondria, fragmented sacroplasmic reticulum and development and aggregation of myelin figures. The effect of vitamin E therapy resulted in significant repair of the dystrophic muscle. Small localized sections of rehabilitated muscle revealed abnormal mitochondria and residual myelin figures.
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PMID:Rehabilitating effect of vitamin E therapy on the ultrastructural changes in skeletal muscles of vitamin E-deficient rabbits. 61 9

Serum creatine kinase isoenzymes were studied in 41 patients suffering from Duchenne type muscular dystrophy and 20 mothers of patients (carriers) by cellulose acetate electrophoresis. Both the MM and MB types were found in all cases of Duchenne type dystrophy patients, and in carriers with highly elevated total creatine kinase activity BB was not observed above the detection limits of the methods used. However, a so-called atypical CK--BB band has been demonstrated.
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PMID:Creatine kinase isoenzyme patterns in Duchenne muscular dystrophy. 70 4

The cardiomyopathies comprise a diverse group of illnesses that can be characterized functionally by several techniques. However, the delineation of derangements of regional perfusion and metabolism have been accomplished only relatively recently with positron emission tomography (PET). Regional myocardial accumulation and clearance of 11C-palmitate, the primary myocardial substrate under most conditions, demonstrate marked spatial heterogeneity when studied under fasting conditions or with glucose loading. PET with 11C-palmitate permits the noninvasive differentiation of patients with nonischemic from ischemic dilated cardiomyopathy, since patients with ischemic cardiomyopathy demonstrate large zones of intensely depressed accumulation of 11C-palmitate, probably reflecting prior infarction. Patients with hypertrophic cardiomyopathy and Duchenne's muscular dystrophy demonstrate relatively unique patterns of myocardial abnormalities of perfusion and metabolism. The availability of new tracers and techniques for the evaluation of myocardial metabolism (11C-acetate), perfusion (H2(15)O), and autonomic tone (11-C-hydroxyephedrine) should facilitate further understanding of the pathogenesis of the cardiomyopathies.
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PMID:Metabolic imaging of patients with cardiomyopathy. 188 95

Protein phosphorylation has been studied in the dydy murine muscular dystrophy, both in intact muscle cells and in various membrane fractions derived from them. The results obtained showed that several polypeptides were more heavily phosphorylated in dystrophic myotubes in culture as well as in dystrophic muscle fibers isolated from tibialis anterior. In vitro phosphorylation studies revealed that a large polypeptide of apparent molecular weight of 170,000-150,000 was phosphorylated under basal conditions (3 mM EGTA) in dydy microsomal membranes. The phosphorylation of this polypeptide was not stimulated further by cAMP, calmodulin, cGMP or 12-O-tetradecanoylphorbol 13-acetate (TPA). Under no condition was the corresponding polypeptide phosphorylated at an appreciable rate in normal microsomal membranes. An antibody raised against the voltage-dependent calcium channel reacted, in an immunoblot assay, with a polypeptide, present in both normal and dydy microsomes, which had migration characteristics identical to the phosphorylated 170-150 kDa polypeptide after one- or two-dimensional gel electrophoresis. Additional differences were identified in the phosphorylation of smaller polypeptides of microsomal membranes. When sarcolemmal membranes of normal and dydy muscle were phosphorylated in vitro, no major differences were observed. These results show the existence of an alteration of protein phosphorylation in dystrophic muscle cells in vitro and in vivo, leading to abnormal phosphorylation of the voltage-dependent calcium channel. The possible causes and consequences of this alteration are discussed.
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PMID:Altered protein phosphorylation in murine muscular dystrophy. 237 59

The structure, the ultrastructure and the number of myonuclei and satellite cells in Duchenne's muscular dystrophy and in control muscles were compared in order to determine the possible changes in the satellite cells population. The bioptical fragments were obtained from 16 healthy (control) and from 16 dystrophic male children from 12 to 96 months of age. The biopsies were embedded in paraffin and in Durcupan and the sections were stained with ematossilin-eosin, P.A.S. for the light microscope observation and with uranil-acetate and lead-citrate for the electron microscope study. Moreover the semithin sections were stained according to the method of Ontell (1974) that is specific for the satellite cells identification. The morphological aspects of the dystrophic muscles are the same previously reported by other authors. The quantitative analysis of the myonuclei and satellite cells in control and dystrophic muscles was carried out on five random sections of each biopsy. The whole number of nuclei (myonuclei and satellite cell nuclei) and the number of the satellite cells nuclei were evaluated and the mean values in controls and dystrophic muscles were compared with the t Student test. The obtained results show that: 1) in the control muscles the satellite cells number is nearly the same in all ages considered; 2) in the dystrophic muscles the satellite cells number is in a statistically significant way greater than in control muscles and show a moderate trend to increase with aging; 3) in the dystrophic muscles the whole number of nuclei (myonuclei and satellite cells) is greater than in control in a statistically significant way and this increase is due to the number of satellite cells.
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PMID:[Satellite cells of normal and dystrophic muscle]. 264 Jul 87

Twenty-eight Holstein heifer calves were allotted at birth to one of four treatments: 1) 0 mg, 2) 1,400 mg, or 3) 2,800 mg of dl-alpha-tocopherol acetate given orally at weekly intervals, or 4) 1,400 IU of dl-alpha-tocopherol weekly by intramuscular injection in order for us to study their performance and metabolic profile. Calves were fed milk at 8% of birth weight until they were weaned at 6 wk of age and fed a complete calf starter ad libitum from birth. Calves were on experiment for 12 wk. There were no significant differences in weekly weight gains, starter consumption, and fecal scores among treatments. However, there was a trend toward greater starter consumption and weight gains in supplemental calves. Serum alpha-tocopherol concentration measured after 7 d of each administration was significantly higher at wk 4 in calves given the high oral supplementation and at wk 2, 4, 6, and 8 higher in injected calves than in unsupplemented calves. Creatine kinase activity was higher in unsupplemented calves and negatively correlated with serum alpha-tocopherol until wk 8, suggesting preclinical muscular dystrophy. Alkaline phosphatase activity was higher with the high oral supplementation. Serum carbon dioxide values showed a trend toward positive correlation with those for serum tocopherol; however, the values were within normal range. There were no significant differences in creatinine, glucose, phosphorus, calcium, urea nitrogen, chloride, sodium, potassium, albumin, and total protein among treatments. Serum glucose was higher in all calves at wk 10 and 12 than at wk 4, 6, and 8. Calves may not get enough vitamin E with conventional calf starters, and supplementation may be essential to obtain maximum performance.
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PMID:Effects of supplemental vitamin E on the performance and metabolic profiles of dairy calves. 406 45

Activity of vitamin E and its derivatives--alpha-tocopheryl quinone, its short chain analogue and alpha-tocopheryl acetate also containing short chain molecule were studied during chicken experimental muscular dystrophy. alpha-Tocopheryl quinone containing short chain molecule proved to be the most active substance; similarly to vitamin E the preparation increased the erythrocyte resistance to osmotic haemolysis, distinctly increased the content of ubiquinone and decreased concentration of ubichromenol in the chicken liver tissue as compared with E-deficient animals. At the same time, the content of ubiquinone was unaltered in skeletal muscles. The data obtained suggest that vitamin E could be effectively substituted by its derivatives for prevention an treatment of muscular dystrophy.
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PMID:[Effectiveness of different alpha-tocopherol derivatives in preventing experimental muscular dystrophy in chickens]. 733 51

Three experiments were carried out with male broiler chickens reared from day- old to 6 weeks of age on semi-purified diets containing 10% fresh (Expt. 1 and 3) or oxidized (Expt. 2) re-esterified triglycerides with a fatty acid composition similar to that of soya bean oil containing increasing concentrations of either a mixture of d-alpha-, gamma-, delta-tocopherylacetate (d-tocopherols) of natural source or dl-alpha- tocopheryl acetate (dl-tocopherol). In Expt. 1 and 2 the mixture of d-tocopherols consisted of 35.7% d-alpha-, 45.3% d-gamma- and 19.0% d-delta-, while in Expt. 3 the distribution was 25.3% d-alpha-, 28.1% d-gamma- and 10.8% d-gamma- in 35.8% re-esterified triglycerides. The relative biopotency of d-alpha-: gamma-: delta-tocopherol was anticipated to be 100:25:1, whereas that of dl-alpha-tocopherol was 74% relative to d-alpha-tocopherol. The experiments demonstrate that the results obtained for the biological activity depend on the response parameters chosen. With respect to gain in weight, feed conversion, relative organ weight, packed cell volume (PCV), ELP (erythrocyte lipid peroxidation), plasma activities of glutamate-oxaloacetate-transaminase (GOT), creatine kinase (CK) and glutathione peroxidase (GSH-Px) and plasma Na+ concentration, the mixture of natural source tocopherols was identical to that of dl-alpha-tocopheryl acetate, although the concentration of alpha-tocopherol was only about one third of that of dl-alpha-tocopherol. Differences between natural source and synthetic tocopherols were expectedly observed with respect to plasma concentrations of alpha-, gamma-, delta-tocopherol. Differences between the two forms as to muscular dystrophy, in vitro haemolysis and potassium concentration in plasma were ambiguous. It is suggested that the function of d-alpha-, gamma-, delta-tocopherol in erythrocyte fragility and skeletal muscle structure should be compared to that of dl-alpha-tocopherol in future investigations.
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PMID:The biological activity of natural source tocopherols in chickens fed fresh or oxidized fat rich in linoleic acid. 821 3

We tested the hypothesis that treatment of mdx mouse muscular dystrophy with the glucocorticoid deflazacort prevents cardiomyopathic lesions and is accompanied by changes in metabolism and gene expression that reflect the improved tissue integrity. Cardiac muscle pathology, expression of alpha-cardiac myosin heavy chain, DNA synthesis, laminin, and basic fibroblast growth factor (bFGF) were examined to characterize dystrophy and changes with treatment. The potential of proton magnetic resonance spectroscopy (H-NMRS) to track cardiac dystrophy and deflazacort effects was also studied. Deflazacort (but not equipotent prednisone) reproducibly decreased lesion prevalence and severity. Treatment also produced cardiomyocyte hypertrophy and a 5.4-fold increase in alpha-cardiac myosin content. Expression of bFGF messenger RNA (mRNA), notable around lesions, rose 3.3-fold, and laminin expression rose 2.1-fold after deflazacort. Studies using H-NMRS showed a cardiac "signature" with less glycine and taurine than limb muscle or diaphragm and shifts with progression of dystrophy (distinct from normal aging) in many metabolites. Increased taurine, acetate, and succinate were present after 2 weeks of deflazacort treatment but were not present after 4 weeks. Although paired kinetic and functional studies of myocardium will be needed to determine the origin of such changes, these results demonstrate the potential application of H-NMRS to monitor clinical heart disease and treatment. In addition, the metabolic effects of deflazacort were substantial in preventing the progression of cardiomyopathy in mdx mice and included increased expression of protectant and stabilizing factors and hypertrophy of cardiac myocytes.
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PMID:Metabolic shifts and myocyte hypertrophy in deflazacort treatment of mdx mouse cardiomyopathy. 1118 Feb 2

The diminished excretion of creatinine in progressive muscular dystrophy is a more striking and specific phenomenon than the excess excretion of creatine, marked though this is. While creatinuria is invariably encountered in all cases of long-standing dystrophy, the extent to which the excretion of creatinine is decreased provides a more reliable indication of the severity of the disease since an excess output of creatine may occur physiologically in normal human subjects and in many pathological conditions not known to be associated with muscle disease. In progressive muscular dystrophy the residual muscle mass, as inferred from the excretion of creatinine, provides a useful index of the state of the disease at any given time. Although there is excessive creatinuria in progressive muscular dystrophy, there is no evidence that a deprivation of methyl stores occurs through a loss of urinary creatine. The loss of methyl groups contained in the excess creatine is, under ordinary conditions of diet, almost exactly compensated for by a drop in the excretion of methyl groups in the urinary creatinine. Testosterone propionate, administered over variable periods of time, resulted in the retention of creatine both in normal male children and in male children with progressive muscular dystrophy, as shown in the normal subjects by a diminution in creatine output, and in both by an excess creatinuria for variable periods of time following withdrawal of the hormone. An increase in the excretion of creatine in progressive muscular dystrophy occurred following the administration of methyl testosterone. Neither testosterone propionate nor methyl testosterone appeared to effect any consistent change in the output or urinary creatinine. No effects on the excretion of creatine and creatinine were observed following the prolonged administration of concentrate of gonadotropic and thyrotropic principles of the hypophysis, or from the administration of desoxycorticosterone acetate to patients with progressive muscular dystrophy. Except in one case, in which marked improvement was observed following the administration of testosterone propionate, no effects on the clinical course of the patients with progressive muscular dystrophy were observed as a result of treatment by any of the various hormones employed in this study.
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PMID:THE SYNTHESIS, STORAGE, AND EXCRETION OF CREATINE, CREATININE, AND GLYCOCYAMINE IN PROGRESSIVE MUSCULAR DYSTROPHY AND THE EFFECTS OF CERTAIN HORMONES ON THESE PROCESSES. 1987 67


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