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)

Spontaneous thymoma rats, Buffalo/Mna (B/Mna), in which nephrotic syndrome (NS) has recently been observed, have notable features in connection with muscle diseases; they exhibit muscle fatigability and weakness. Some biochemical measurements used for diagnosis of muscle diseases and NS were performed in these rats. ACI strain served as a reference strain. Urinary creatinine level and serum enzyme activities such as CPK, aldolase, GOT and GPT in the B/Mna rats did not differ from those in the ACI rats. On the other hand, urinary creatine level, the ratio of urinary creatine to creatinine and serum total cholesterol level in the B/Mna rats were significantly greater than those in the ACI rats. B/Mna rats also showed proteinuria and hypoalbuminemia. These results indicate the possibility of some pathological change of skeletal muscles which may result at least partially from abnormal lipid metabolism and hypoproteinemia as a consequence of NS, differing from the typical muscular dystrophy.
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PMID:Biochemical study on spontaneous thymoma rats with motor dysfunction. 662 Jan 16

In both 2- and 3-month-old 129 ReJ mice, the catalytic activity levels of three enzymes involved in glycogen breakdown (phosphorylase, enolase, and aldolase) were found to be 35-50% lower in hind limb muscles of dystrophic mice as compared with normal mice. The reduced activities of these enzymes in the diseased tissue was directly due to corresponding reductions in the number of enzyme molecules rather than being due to inactivation of the enzymes in the dystrophic muscle. Results of short term double isotope incorporation experiments conducted with muscle explants in vitro suggested that the rates of synthesis of these enzymes, and of most other abundant cytosolic proteins, relative to each other, were similar in hind limb muscles of normal and dystrophic mice. The present work on murine muscular dystrophy is discussed in terms of our previous studies into the influence of avian muscular dystrophy on the content and synthesis of abundant glycolytic enzymes in chicken skeletal muscles.
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PMID:Content and synthesis of several abundant glycolytic enzymes in skeletal muscles of normal and dystrophic mice. 669 88

Total activity of creatine kinase (CK), lactate dehydrogenase (LD), aldolase (Ald), glutamico-oxaloacetic transaminase (GOT), and LD-isoenzyme distribution was studied in serum and muscle biopsies from normal persons and 117 patients with different types of muscular dystrophy: 82 Duchenne type (DMD), 12 BEcker type, 7 facioscapulohumeral (FSHMD), and 16 limb girdle (LGMD). Total enzyme activity in sera and muscle homogenates was determined by spectrophotometric assays. LD isoenzymes were separated by electrophoresis on agarose gel plates in barbital buffer (pH 8.6), scanned and quantitated. The amounts of the 2 types (M and H) of LD isoenzymes were calculated and the ratio of M/H in serum and muscle was used as an index to differentiate among the types of muscular dystrophy. Serum enzyme activity was elevated to variable degrees reflecting a corresponding decrease in muscle enzymes in the different muscular dystrophies. Patterns of LD isoenzymes in serum and muscle were specific to each type of muscle disease. Increase in serum LD5 (the muscle LD fraction) was a common feature in muscle damage. Changes in the amounts of M and H types in the subunits of LD correlated to the existence and severity of muscle damage. The mean muscle M/H ratio was 6.4 in controls, 1.8 in early DMD, 0.1 in late DMD, 3.0 in Becker type, 3.8 in FSHMD and 3.9 in LGMD. The muscle LD isoenzyme distribution in DMD showed a shift toward a more aerobic fetal muscle pattern. This is a result of the gradual disappearance of the mature anaerobic LD-type (M) and the increase in synthesis of the aerobic fetal LD-type (H) during the progression of the disease. This report provides a comparative study of the LD isoenzyme patterns in muscular dystrophies which may help in differential diagnosis.
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PMID:Muscle and serum enzymes and isoenzymes in muscular dystrophies. 723 20

Authors have treated with allopurinol ten children with progressive muscular dystrophy, whose ages were between 15 months to eleven years. An initial and monthly clinical evaluation of muscular strength, Gowers's sign and pseudohypertrophy was performed. Monthly determinations of CPK, LDH, aldolase, GOT and serum urate; every two months electromyography was also made. In three patients a complete recovery of strength, Gowers's sign was found and at the same time pseudohypertrophy diminished; the age average was three years and four months. In four patients a partial recovery was found; the age average was nine years and four months. In three patients there was no answer to treatment, they were contracted and had deformities, being age average ten years. No variations on monthly controls of CPK, LDH, aldolase and GOT were observed. On these facts their opinion is that allopurinol is an effective drug in the treatment of progressive muscular dystrophy and that its' effectivity is better when treatment is initiated early and, of course, before patients present deformities and contractures.
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PMID:[Allopurinol in progressive muscular dystrophy (author's transl)]. 746 88

Membrane-mediated excessive intracellular calcium accumulation (EICA) is a fundamental pathogenetic event associated with chronic muscle degeneration in patients with Duchenne muscular dystrophy (DMD), and in animals with hereditary muscular dystrophy (HMD). Because of potential Ca(2+)-channel blocking properties, we investigated the relative efficacies of chronic diltiazem (DTZM) (50 mg/kg/d), nifedipine (NFDN) (6 mg/kg/d), and verapamil (VPML) (25 mg/kg/d) therapies in reducing EICA and improving dystrophic pathobiology beginning in 30-day-old male BIO-14.6 strain dystrophic hamsters (DH). Each agent, and sterile distilled water as vehicle control, was given in a single daily oral dose for 180 days to four groups each of DH and BIO-F1B strain normal hamsters (NH). Plasma [Ca] and [Mg]; plasma aldolase (ALD), creatine kinase (CK), and lactate dehydrogenase (LDH) activities; relative cardiac hypertrophy and relative soleus hypertrophy; tissue [Ca] and [Mg] of the heart and rectus femoris muscle, histology of rectus femoris, and overall mortality rate were quantitated. Muscle Mg was not modified in DH, or by any of these agents. NFDN produced significant edema in the soleus and myocardium. During the 6-month therapeutic trial, 45% DH and 18% NH died on VPML, 27% DH and 9% NH on NFDN, and 20% DH controls on distilled water, but none on DTZM; suggesting that DTZM treated DH lived longer than DH controls. Relative efficacy in regulating EICA in both the cardiac and skeletal muscles; plasma ALD, CK, and LDH; and improving associated dystrophic pathobiology was found to be DTZM >>> NFDN > VPML. DTZM appears to be the most effective and safest agent in mitigating EICA in cardiac and skeletal muscles, efflux of intracellular enzymes, histopathology of dystrophic muscle with sporadic necrosis, and chronic muscle degeneration in DH with HMD. DTZM therapy also halted the high morbidity and mortality associated with the dystrophic pathobiology inherent in DH.
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PMID:Regulation of membrane-mediated chronic muscle degeneration in dystrophic hamsters by calcium-channel blockers: diltiazem, nifedipine and verapamil. 846 95

The paper presents the description of Duchenne progressive muscular dystrophy in an 18-month-old and an 8-year-old boy. The diagnosis was established on the basis of clinical symptoms, such as impaired motor development, hypertrophy of leg muscles, difficulty in walking; elevated serum phosphocreatine kinase activity and pathologic electromyographic recordings. The authors emphasize that the disease is characterized by increased activity of such enzymes as: alanine and aspartate aminotransferases, lactate dehydrogenase and aldolase--observed as early as in the first weeks of life, with normal gammaglutamyltranspeptidase activity suggests progressive muscular dystrophy and makes it possible to establish early diagnosis. Early diagnosis of the disease allows to start rehabilitation earlier, to select an appropriate type of anesthesia in case of surgical treatment and to advise parents within the framework of genetic counseling.
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PMID:Early symptoms of Duchenne muscular dystrophy--description of cases of an 18-month-old and an 8-year-old patient. 1120 76

Aldolase (EC 4.1.2.13) plays an important role in glucose metabolism. Aldolase has a molecular weight of 160 kDa and has three isozymes, namely aldolase A, B and C. The enzyme is probably present in all cells; it occurs in particularly large quantities in the muscles, liver and brain. An increase in serum aldolase is found in myotonic muscular disease, such as progressive muscular dystrophy and polymyositis. The enzyme rises in myocardial infarction, reaches a maximum within 24-48 hours and returns to normal in the course of five days. In these muscular diseases, aldolase A isozyme is elevated. Aldolase activity, especially B isozyme, in serum rises to very high levels in acute hepatitis, but is slightly elevated in cirrhosis, chronic hepatitis and obstructive jaundice. Aldolase becomes elevated in serum with malignant tumors, and isozyme A is predominant in serum. Erythrocytes are also rich in aldolase, and the enzyme rises in hemolytic anemia.
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PMID:[Aldolase]. 1179 71

The dystrophin-associated protein complex (DPC), comprising sarcoglycans, dystroglycans, dystrobrevins, and syntrophins, is a component of synapses both in muscle and brain. Dysbindin is a novel component of the DPC, which binds to beta-dystrobrevin and may serve as an adaptor protein that links the DPC to an intracellular signaling cascade. Disruption of the DPC results in muscular dystrophy, and mutations in the human ortholog of dysbindin have been implicated in the pathogenesis of schizophrenia. In both cases, patients also present with neurological symptoms reminiscent of cerebellar problems. In the mouse cerebellum, dysbindin immunoreactivity is expressed at high levels in a subset of mossy fiber synaptic glomeruli in the granular layer. Lower levels of dysbindin immunoreactivity are also detected in Purkinje cell dendrites. In the cerebellar vermis, dysbindin-immunoreactive glomeruli are restricted to an array of parasagittal stripes that bears a consistent relationship to Purkinje cell parasagittal band boundaries as defined by the expression of the respiratory isoenzyme zebrin II/aldolase c. In a mouse model of Duchenne muscular dystrophy, the mdx mutant, in which dystrophin is not expressed, there is a dramatic increase in the number of dysbindin-immunoreactive glomeruli in the posterior cerebellar vermis. Moreover, the topography of the terminal fields is disrupted, replacing the stripes by a homogeneous distribution. Abnormal synaptic organization in the cerebellum may contribute to the neurological problems associated with muscular dystrophy and schizophrenia.
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PMID:Abnormal dysbindin expression in cerebellar mossy fiber synapses in the mdx mouse model of Duchenne muscular dystrophy. 1287 99

In a study of 58 patients with various diseases of muscle or of the neuromuscular system, the serum activity of various enzymes was measured. Abnormal elevation of serum activities of aldolase, lactic dehydrogenase and, to a lesser extent, glutamic-oxalacetic transaminase and phosphohexose isomerase, was an almost constant feature in patients with progressive muscular dystrophy. These elevations were very frequent in dermatomyositis, common in acute cerebral vascular accidents, and rarely seen in other neurological disorders. Abnormal serum activity of iso-citric dehydrogenase was not observed in the course of the present study. Supplementary protein feeding of patients with muscular dystrophy had no effect on serum enzyme activity, no consistent effect on urinary creatine excretion and no effect on the strength of the patient or the course of the disease. Dystrophic muscles from a dystrophic strain of mice showed a decrease in activity of lactic dehydrogenase and aldolase below that of control muscle and an increase of iso-citric dehydrogenase activity. These findings, taken with the differences in serum activities of lactic dehydrogenase, aldolase and isocitric dehydrogenase in the dystrophic animals, support the conclusion that dystrophic animals handle these soluble enzymes in quite different ways.
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PMID:Serum enzymes; variations of activity in disease of muscle. 1361 35

Aldolase was estimated in the cord blood of 81 newborn infants and phosphocreatine kinase in 87 infants. There is a wide range in the results, with some values falling in the range reported in children with muscular dystrophy or of carriers of the disease. There is no correlation of the serum enzyme levels with the infant's birth weight. High levels of phosphocreatine kinase were found in infants of mothers with pre-eclamptic toxaemia. A single estimation of cord phosphocreatine kinase and aldolase is of little help in determining whether or not an infant has muscular dystrophy.
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PMID:Serum aldolase and phosphocreatine kinase in umbilical cord blood. 1681 Oct 35


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