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 evaluated glutamine synthetase (GS) and alanine aminotransferase (GPT) activities in biopsied muscle from 40 cases of various neuromuscular diseases. GS and GPT catalyze the synthesis of glutamine and alanine, respectively, from amino acids derived in part from the breakdown of muscle proteins. The subjects were 7 cases of muscular dystrophy; 1 Duchenne type (DMD), 3 limb-girdle type, 2 facioscapulohumeral type (FSH), 1 Fukuyama type (FCMD); and 1 myotonic dystrophy (MyD); 5 mitochondrial myopathies; 11 inflammatory myopathies including 6 polymyositis and 3 myopathy associated with collagen disease; 5 endocrinological myopathies including 2 periodic paralysis; and, 11 cases of neurogenic amyotrophies [4 amyotrophic lateral sclerosis (ALS), 4 spinal progressive muscular atrophy (SPMA) and 3 other types]. Control subjects were 8 patients with thigh operations. Biopsied muscle was homogenized and assayed for GS activity by the method of Smith et al.; GPT was assayed by commercial kit. Protein was assayed by the method of Lowry et al. Enzyme activities between mean -2SD and mean +2SD of controls were considered to be the normal range. GS activity in control subjects was 28.22 +/- 7.13 (mean +/- SD) nmol glutamine formed/mg protein/hr. Fifteen of 40 cases showed increased enzyme activity, including DMD and FCMD, the acute phase of polymyositis, and periodic paralysis. GPT activity in controls was 16.56 +/- 4.05 IU/mg protein. Sixteen of 40 patients showed increased enzyme activity: FCMD, FSH, MyD, inflammatory and endocrinological myopathy, and ALS. On the other hand, mitochondrial myopathy showed significantly decreased activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Studies on enzyme activities relating to amino acid mobilization in biopsied muscles]. 198 Jun 44

The objective of this prospective study was to determine anal sphincter function and thickness of the anal musculature in patients with myotonic muscular dystrophy. Manometric studies were performed in 16 patients with myotonic dystrophy and in 16 healthy controls. Patients had significantly lower basal and squeeze pressures than control subjects (P less than 0.01). The results of ultrasonographic studies of the anal canal in 7 patients and 7 control subjects suggest that this decrease in muscle strength is partly explained by muscular atrophy. In addition, patients with myotonic dystrophy showed exaggerated rebound contractions following and sphincter relaxation that was induced by rectal distention. The pattern of this response and the results of electromyographic studies in 6 patients with myotonic dystrophy suggest that such abnormalities are explained by a neurogenic defect rather than a myotonic response of the anal musculature. It is concluded that patients with myotonic dystrophy show a multitude of defects in the anal sphincter that are an expression of myopathy, muscular atrophy, and neural abnormalities.
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PMID:The anal sphincter in patients with myotonic muscular dystrophy. 198 39

Histidine-rich calcium binding protein (HRC) is a luminal sarcoplasmic reticulum (SR) protein of 165 kDa identified by virtue of its ability to bind 125I-labeled low-density lipoprotein with high affinity after sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Hofmann et al., J. Biol. Chem. 264: 8260-8270, 1989). Its role in SR function is unknown. In this report, the gene encoding human HRC was localized to human chromosome 19 and mouse chromosome 7 by hybridization of a human HRC cDNA fragment to a panel of somatic cell hybrids. Known synteny between a portion of human chromosome 19 and a portion of mouse chromosome 7 and in situ hybridization of a biotin-labeled HRC probe to human chromosomes suggest a localization to a region corresponding to 19q13.3. The locus for myotonic dystrophy resides in the region 19q13.2-13.3. Therefore, we considered HRC, a muscle-specific gene, to possibly represent a "candidate gene" for myotonic muscular dystrophy. As a first step toward localizing HRC in relation to the myotonic dystrophy locus, we report the cloning of the human HRC gene, its intron-exon organization, and characterization of several informative polymorphisms to be used in future linkage studies in families with myotonic dystrophy. Of particular interest is an Alu-associated poly-d(GA) sequence located in an intron in the middle of the gene, and two stretches of acidic amino acids in the coding region of exon 1 that vary in length among different individuals.
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PMID:cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7. 203 93

Dystrophia myotonica (Steinert's disease) is the most common hereditary disease of the neuromuscular system in adults. Its mode of inheritance is autosomal dominant. The gene responsible for its is located on chromosome 19 in the linkage domain of the loci for the apolipoproteins C2, C1 und E and of the creatine kinase of skeletal muscle (CKMM). Myotonic dystrophy is categorized in an adult and in a congenital form. In the adult form, the characteristic findings are muscular atrophy in certain regions of the body (face, neck and distally in the extremities) and myotonia. Cataract, intraocular hypotension, gonadal atrophy, conduction abnormalities in the heart and hearing deficiencies appear quite often in the course of the disease. In the congenital form, general muscle weekness (particularly pronounced in the face) is the leading finding, combined with retarded loco motor and mental development. A decisive criterion for the diagnosis of this form is the occurrence of myotonic dystrophy in the patient's mother. Electromyographic investigation is indicated when a suspicion of myotonic dystrophy cannot be ascertained on the basis of clinical and genetic findings. Myotonic runs in the EMG will then corroborate the suspicion. Recent electrophysiological investigations have indicated that at least three different types of channels for the passage of ions through the membrane of the skeletal muscle cells show abnormal behaviour, i.e. the channel for Cl-, Na+ and K+. These findings corroborate the hypothesis that the abnormality responsible for myotonic dystrophy is situated in the membrane systems. A pharmacological treatment of the muscular dystrophy has not yet been developed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Dystrophia myotonica (Steinert disease)--a frequently misdiagnosed disease]. 219 75

An X chromosome-linked mouse mutant (mdx) has been investigated as an animal model of Duchenne's muscular dystrophy, and has been found to have the same defect of dystrophin in the muscle surface membrane. Intracellular recordings from the mdx mouse hemidiaphragm preparations revealed low resting membrane potentials and electrical myotonia which occurred at the time of microelectrode insertion and withdrawal. Electrical myotonia of the mdx mouse was observed in 30-50% of the impaled muscle fibers at low temperature, which decreased to only 7.8% at 37 degrees C. Electrical myotonia of mdx mice was not abolished by (+)-tubocurarine. Though there was no behavioral myotonia in mdx mice, repetitive bursts of action potentials in mdx mice were based on the abnormalities of the muscle membrane since neuromuscular blockade did not abolish the repetitive bursts. Also close observation of the lenses of mdx mice revealed cataracts from the newborn stage to the adult age. Slit lamp examination of the lenses of the mdx mice revealed nuclear cataracts followed by anterior subcapsular cataract as they grew. The cataract of mdx mice is different from that of myotonic dystrophy which is usually posterior subcapsular.
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PMID:Electrical myotonia and cataract in X-linked muscular dystrophy (mdx) mouse. 225 Jan 75

We report on the physical ordering of genes in a relatively small area of chromosome 19, segment q13, containing the locus for myotonic dystrophy (DM), the most frequent heritable muscular dystrophy of adulthood in man. DNAs from somatic cell hybrids with der 19q products that carry a breakpoint across the muscle-specific creatine kinase (CKMM) gene were analyzed by Southern blotting using probes for CKMM, APOC2, and the repair genes ERCC1 and ERCC2. Results were combined with data from CHEF and field inversion-gel-electrophoresis separation of large-sized DNA restriction fragments to establish a map localizing both DNA-repair genes and the CKMM gene within the same 250 kb of DNA, the order being cen-CKMM-ERCC2-ERCC1-ter, with APOC2 being at more than 260 kb proximal to CKMM. Transcriptional start sites of the CKMM and DNA-repair genes are all on the telomeric side of the genes. Our results provide a framework for the construction of a larger physical map of the area, which will facilitate the search for the DM gene.
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PMID:A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCC1 and ERCC2 genes. 230 1

Myotonic dystrophy (MD) is the most common form of muscular dystrophy in adult life, with a clinical prevalence of 5.5/100,000, being the gene prevalence of 13.5. The disease is autosomal dominant with variable expressivity, existing a congenital form with a severe prognosis. Recent genetic studies revealed that the DM gene is localized in the chromosome's 19 proximal long arm and with recombinant DNA techniques, several polymorphic markers have been isolated near the gene, the closet being Apo-CII, LDR 152 and p 4.1. We have studied clinically, electrophysiologically and by genetic analysis 6 families with 32 individuals. We have diagnosed the disease in 16 individuals and after the molecular analysis, the DM gene was totally excluded in 6 clinically healthy individuals. In our preliminary study, the use of Msp I/p 4.1, Bgl II/LDR 152 y Ban I, Bgl I, Taq I/Apo-CII c-DNA and genomic was found the most informative combination. These molecular analysis seem to be very useful as a complement to the diagnosis of myotonic dystrophy.
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PMID:[Genetic analysis of Spanish families with myotonic dystrophy]. 236 Oct 46

Myotonic muscular dystrophy, or Steinert disease, is a dominantly inherited disease of muscle which occurs with a frequency of between 1 in 18,000 and 1 in 7,500 people (refs 1, 2). One of the prominent clinical manifestations is muscle stiffness and difficulty in relaxation of muscles after voluntary contractions. Electrophysiological signs of myotonia include increased excitability with a tendency to fire trains of repetitive action potentials in response to direct electrical and mechanical stimulation. Most experimental and clinical data suggest that myotonic muscular dystrophy arises from genetically induced alterations of the muscle membrane. We show here for the first time that muscle membranes of patients with myotonic muscular dystrophy contain the receptor for apamin, a bee venom toxin known to be a specific and high-affinity blocker of one class of Ca2+-activated K+ channels in mammalian muscle. The apamin receptor is completely absent in normal human muscle as well as in muscles of patients with spinal anterior horn disorders.
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PMID:Expression of apamin receptor in muscles of patients with myotonic muscular dystrophy. 241 58

A 1-month-old male thoroughbred foal, which had difficulty in walking, was killed and examined by histological, histochemical and ultrastructural methods. The muscles of the trunk and upper hind limbs were chiefly affected, and changes in the affected muscles resembled those in muscular dystrophy in man. The type of muscular dystrophy present in this foal and the significance of this disease in thoroughbred horses are discussed. The dystrophy in this foal resembled the limb-girdle type or myotonic dystrophy of muscular dystrophy in man.
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PMID:Muscular dystrophy-like disease in a thoroughbred foal. 252 8

The degree of DNA-polyploidy of cardiac muscle cells was investigated by cytofluorometry in 4 cases of progressive muscular dystrophy (DMP) and 2 cases of myotonic dystrophy (DM), and the results were compared with those for non-dystrophic hearts of normal or increased weight. The heart muscle cells from all patients with these forms of dystrophy showed marked nuclear DNA hyperploidy reaching 16c, irrespective of cardiac hypertrophy or atrophy. In the non-dystrophic group, DNA hypertrophy corresponding to that of dystrophy was only detected in cases of marked cardiac hypertrophy exceeding a weight of 400 g. The wasting of the respiratory musculature, deformity of the thorax and cardiac muscular atrophy appeared to be the principal factors causing DNA polyploidy in patients with muscular dystrophy.
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PMID:Cytofluorometric determination of nuclear DNA in heart muscles of patients with muscular dystrophy. 253 66


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