Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235394 (wasting)
 8,040 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive muscle-wasting disease. The dystrophin gene responsible for the disease is the largest human gene ever cloned and is prone to gross gene deletion in two "hot spot" regions. Using nine pairs of oligonucleotide primers deduced from the two regions, we have screened 23 unrelated Chinese DMD/BMD patients by multiplex polymerase chain reaction. Nine (39%) patients were noted to have gene deletion, one in the 5' terminus and eight in the distal half of the gene. The incidence is similar to that reported in other large series mainly on Caucasian patients. The "hot-spot" regions also seem to be present in Chinese patients. Multiplex gene amplification for deletion analysis is useful in the diagnosis of patients with neuromuscular diseases and is an important aid in the prenatal diagnosis and genetic counseling of at-risk families.
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PMID:Dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients via multiplex DNA amplification. 136 73

A 22-year-old man with Down syndrome had a history of progressive muscular wasting which began at the age of 12 years. Serum CK level was elevated to 545 U/l (normal < 150) and muscle CT scan revealed patchy low density areas in the proximal muscles. A muscle biopsy specimen revealed marked dystrophic changes with patchy immunostaining for dystrophin. Multiplex PCR analysis of the genomic DNA extracted from peripheral blood lymphocytes disclosed a deletion of exons 45-47 of the dystrophin gene, confirming a diagnosis of Becker muscular dystrophy (BMD). This is the first report of Down syndrome complicated with BMD. Careful observation is required in detecting a coexistence of myopathy in mentally retarded patients.
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PMID:[A case of Down syndrome complicated with Becker muscular dystrophy]. 812 83

The traditional clinical criteria for identifying a manifesting Duchenne carrier are a positive family history, proximal limb weakness, calf hypertrophy, high serum creatine kinase. We describe a 52-yr-old woman with history of 1 1/2 yr of progressive wasting and weakness of the left calf and marked elevation of serum creatine kinase. Although her quadriceps was clinically silent, it showed mild alterations on ultrasound, computerized tomography and biopsy, and some abnormalities in dystrophin immunostaining, suggesting a manifesting carrier of the dystrophin gene. Given the enormous variability of manifestations of the Duchenne variant in females, we suggest that great care must be exercised in ruling out this genetic disorder.
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PMID:Calf myopathy with a twist. 817 47

Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscle-wasting disorder with an incidence of approximately 1/3,500 male births. Females are also affected, in rare instances. The manifestation of mild to severe symptoms in female carriers of dystrophin mutations is often the result of the preferential inactivation of the X chromosome carrying the normal dystrophin gene. The severity of the symptoms is dependent on the proportion of cells that have inactivated the normal X chromosome. A skewed pattern of X inactivation is also responsible for the clinical manifestation of DMD in females carrying X;autosome translocations, which disrupt the dystrophin gene. DMD may also be observed in females with Turner syndrome (45,X), if the remaining X chromosome carries a DMD mutation. We report here the case of a karyotypically normal female affected with DMD as a result of homozygosity for a deletion of exon 50 of the dystrophin gene. PCR analysis of microsatellite markers spanning the length of the X chromosome demonstrated that homozygosity for the dystrophin gene mutation was caused by maternal isodisomy for the entire X chromosome. This finding demonstrates that uniparental isodisomy of the X chromosome is an additional mechanism for the expression of X-linked recessive disorders. The proband's clinical presentation is consistent with the absence of imprinted genes (i.e., genes that are selectively expressed based on the parent of origin) on the X chromosome.
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PMID:Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. 898 59

Duchenne muscular dystrophy is a muscle-wasting disease accompanied by a variable, but often significant degree of mental retardation, possibly due to the absence of dystrophin. However, the function of brain type dystrophin remains insufficiently clear. With this background, in order to study the cell-specific regulation of brain type dystrophin expression in mice, we generated transgenic mice carrying the 2.1 kb 5'-fragment of the mouse brain type dystrophin gene, fused to the coding region of the bacterial lacZ gene. Three transgenic mice lines showed lacZ expression in the cerebral cortex. However, lacZ expression was not detected in the CA region of the hippocampus. These results suggest that the 2.1 kb 5'-fragment of the mouse brain type dystrophin gene contains the regulatory element required for its expression in the cerebral cortex, but not in the hippocampus.
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PMID:2.1 kb 5'-flanking region of the brain type dystrophin gene directs the expression of lacZ in the cerebral cortex, but not in the hippocampus. 909 55

We present here a 28-year-old male patient with Becker muscular dystrophy whose skeletal muscle showed an absence of dystrophin. He has had progressive and predominantly proximal muscular wasting since 5 years of age, but was able to walk until 26 years of age. He showed hypertrophic calves, cardiomyopathy, and an elevated serum creatine kinase level (934 U/1). A skeletal muscle biopsy revealed advanced chronic myopathic changes. Immunohistochemical examination using anti-dystrophin antibodies against C-terminus showed deficiency of the protein. Rod domain and N-terminus were also absent in almost all muscle fibers, but only in a small part of the sample, they were faintly stained. beta-Dystroglycan and utrophin were present only in a small number of muscle fibers. DNA and RT-PCR analysis showed a frame-shift deletion of exons 3-7 in the dystrophin gene. In such an exceptional case as this one, it is important to investigate the factors which determine the severity of dystrophinopathy.
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PMID:Undetectable dystrophin can still result in a relatively benign phenotype of dystrophinopathy. 1039 48

A man was identified with two X-chromosomal neuromuscular disorders, X-linked Charcot-Marie-Tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.
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PMID:Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy. 1079 9

Muscular dystrophies (MD) are a clinically and genetically heterogeneous group of skeletal muscle-wasting diseases. Mutations in the dystrophin gene result in dystrophin deficiency, which constitutes the pathogenic basis of Duchenne and Becker MD (DMD and BMD). Several MD are caused by mutations in other recently identified genes coding for proteins linked to the sarcolemma, the nuclear envelope or the contractile apparatus. In addition, several MD have been mapped to different chromosomal loci and for most of them, the identification of the molecular defect is underway. The immediate result is an ongoing reclassification of the MD into disorders defined not by clinical characteristics but specific genetic mutations. At present, therapy of MD is based on symptomatic treatment and supportive care. Convincing evidence for clinical efficacy is only available for corticosteroids that also suffer from frequent and severe side effects. Up to now, curative therapy is not available, although promising new molecular therapies are under investigation in animal models of MD. Current treatment strategies are discussed and a perspective for effective molecular therapy is given.
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PMID:Novel approaches to treat muscular dystrophies. 1128 19

Duchenne muscular dystrophy is a debilitating muscle-wasting disease caused by mutations in the dystrophin gene - one of the largest genes identified thus far - and which ultimately results in premature death. With no current treatment available, the hopes of many sufferers lie in the establishment of an effective gene therapy. The adeno-associated virus is now emerging as a premium gene transfer vector eliciting minimal immune response from the host and allowing for long-term gene expression. It is the scope of this review to examine the recent efforts that have been made to develop ultra-truncated versions of the dystrophin gene that retain functionality, yet can still be cloned into recombinant adeno-associated viral vectors and other low-capacity vector systems.
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PMID:The future of Duchenne muscular dystrophy gene therapy: shrinking the dystrophin gene. 1222 72

Duchenne muscular dystrophy (DMD) is a severe progressive muscle-wasting disorder caused by mutations in the dystrophin gene. Studies have shown that bone marrow cells transplanted into lethally irradiated mdx mice, the mouse model of DMD, can become part of skeletal muscle myofibers. Whether human marrow cells also have this ability is unknown. Here we report the analysis of muscle biopsies from a DMD patient (DMD-BMT1) who received bone marrow transplantation at age 1 year for X-linked severe combined immune deficiency and who was diagnosed with DMD at age 12 years. Analysis of muscle biopsies from DMD-BMT1 revealed the presence of donor nuclei within a small number of muscle myofibers (0.5-0.9%). The majority of the myofibers produce a truncated, in-frame isoform of dystrophin lacking exons 44 and 45 (not wild-type). The presence of bone marrow-derived donor nuclei in the muscle of this patient documents the ability of exogenous human bone marrow cells to fuse into skeletal muscle and persist up to 13 years after transplantation.
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PMID:Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. 1223 12


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