Disease relevance of Muscular Dystrophy, Duchenne

• The identification of a mouse X-linked mutant showing muscular dystrophy, mdx, has provided a candidate mouse genetic homologue to the DMD locus; the relatively mild pathological features of mdx suggest it may have more in common with mutations of the Becker muscular dystrophy type at the same human locus, however [1].
• Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia [2].
• BACKGROUND: Carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) may show muscle weakness or dilated cardiomyopathy [3].
• These findings suggest that dystrophin deficiency could predispose susceptible neuronal populations to cumulative hypoxic insults that may contribute to the development of cognitive deficits in Duchenne/Becker muscular dystrophy patients and that the effects of such periods of hypoxia may be pharmacologically remediable [4].
• A high incidence of mitral valve prolapse (MVP) has been reported in patients with X-linked Duchenne muscular dystrophy [5].

Psychiatry related information on Muscular Dystrophy, Duchenne

• The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation [6].
• 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 [7].
• This review will update the current status of research in several neurological genetic diseases including myotonic muscular dystrophy, Huntington's disease, Charcot-Marie-Tooth disease and Duchenne muscular dystrophy (X-linked) [8].
• Microfilaments are involved in certain pathogenetic processes on account of defects in their associated proteins; in Duchenne muscular dystrophy, dystrophin is defective, while the defective protein in Rett syndrome is synapsin [9].

High impact information on Muscular Dystrophy, Duchenne

• The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin [10].
• Is nebulin the defective gene product in Duchenne muscular dystrophy [11]?
• Employing pulsed field gradient electrophoresis, we constructed a 4.5 million bp (Mb) Sfil restriction map of the human X-chromosomal region p21, harboring genes for Duchenne (DMD) and Becker Muscular Dystrophy [12].
• Failure of fetal creatine phosphokinase as a diagnostic indicator of Duchenne muscular dystrophy [13].
• Duchenne and Becker muscular dystrophy (DMD and BMD) are X-linked recessive diseases caused by defective expression of dystrophin [14].

Chemical compound and disease context of Muscular Dystrophy, Duchenne

• Decreased insulin receptors but normal glucose metabolism in Duchenne muscular dystrophy [15].
• Palmitoleic acid in erythrocytes from carriers of Duchenne muscular dystrophy [16].
• Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin [17].
• Allopurinol in Duchenne muscular dystrophy [18].
• X-linked recessive (Duchenne) muscular dystrophy and purine metabolism [19].

Biological context of Muscular Dystrophy, Duchenne

• Duchenne and Becker muscular dystrophy (DMD and BMD) genes are located in Xp21 on the short arm of the X chromosome [20].
• The Duchenne muscular dystrophy (DMD) gene has been localized to chromosome Xp21 and codes for a 14-kilobase (kb) transcript and a protein called dystrophin, of relative molecular mass 427,000 [21].
• Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), a much milder form of the disease where the age of onset can sometimes be as late as the third or fourth decade of life, are caused by mutations in the same X-linked gene, a 14 kilobase (kb) transcript which is spread over more than 2 megabases of the human X chromosome [22].
• Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy [23].
• Overabundance of matrix FGF in mdx muscles may be related to an increase in both satellite cell and regenerative activity in the dystrophic muscle and may help explain the benign phenotype of mdx animals compared with the genetically identical human Duchenne muscular dystrophy [24].

Anatomical context of Muscular Dystrophy, Duchenne

• These results support the hypothesis that the dramatic reduction in the 156K DAG in Duchenne muscular dystrophy leads to a loss of a linkage between the sarcolemma and extracellular matrix and that this may render muscle fibres more susceptible to necrosis [25].
• During the past year significant progress has been made in understanding how dystrophin deficiency leads to muscle cell necrosis in Duchenne muscular dystrophy and Becker muscular dystrophy [26].
• Dystrophin production induced by myoblast transfer therapy in Duchenne muscular dystrophy [27].
• Dystrophin, the protein product of the human Duchenne muscular dystrophy gene, exists in skeletal muscle as a large oligomeric complex that contains four glycoproteins of 156, 50, 43, and 35 kD and a protein of 59 kD [28].
• We blind-tested a method that in earlier studies had shown increased leucine uptake in muscle fibers of biopsy specimens from three obligate carriers and seven of 11 putative carriers of the gene for Duchenne muscular dystrophy [29].

Gene context of Muscular Dystrophy, Duchenne

• The mouse mdx mutation affects muscle and confers a mild dystrophic syndrome, but it is not clear whether this mutation is equivalent to Duchenne/Becker muscular dystrophy in man [30].
• The possible relationship of HAP1 and nNOS in the brain is reminiscent of the relationship of dystrophin and nNOS in skeletal muscle and suggests a role of NO in Huntington disease, analogous to its postulated role in Duchenne muscular dystrophy [31].
• Utrophin is a close homologue of dystrophin, the protein defective in Duchenne muscular dystrophy [32].
• Failure of serotonin inhibitor to effect nocturnal GH and prolactin secretion in patients with Duchenne muscular dystrophy [33].
• Dystrobrevins are protein components of the dystrophin complex, whose disruption leads to Duchenne muscular dystrophy and related diseases [34].

Analytical, diagnostic and therapeutic context of Muscular Dystrophy, Duchenne

• Clonal myogenic cell cultures were established from a potential heterozygote for a mutant Duchenne muscular dystrophy (DMD) gene who was also heterozygous for isozymes of the X-linked enzyme glucose-6-phosphate dehydrogenase [35].
• Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD) [36].
• Duchenne and Becker muscular dystrophy are caused by defects in the dystrophin gene, and are candidates for treatment by gene therapy [37].
• All 4 patients had clear abnormalities of dystrophin, and were diagnosed as having Becker muscular dystrophy by both immunofluorescence and immunoblot examinations; that is, dystrophin of an abnormal molecular mass was visualized in muscle cryosections as "patchy" or discontinuous immunostaining at the surface membrane of the muscle fibers [38].
• The aim of this study was to identify point mutations in patients with Duchenne or Becker muscular dystrophy (DMD or BMD) who have no gross DNA rearrangements detectable by Southern blot analysis or multiplex exon amplification [39].

References