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)

Avian muscular dystrophy is characterized by the degeneration of fast white skeletal muscle fibers, with onset during development. Using a one-dimensional peptide mapping technique, we have detected two forms of the myosin heavy chain in the fast white fibers of adult domestic chickens, one form characteristic of birds homozygous for muscular dystrophy, the other of their normal controls. Four dystrophic strains carrying the same gene for muscular dystrophy were examined. No differences were detected in the embryonic heavy chain peptide maps of normal and dystrophic chickens, consistent with the developmental onset of the condition. Differences were also absent from the peptide maps of heavy chains from slow red fibers, which are unaffected in dystrophy. No dystrophy-specific peptide map differences were detected in the three light chains. Analysis of peptide maps of rod and the heavy chain component of subfragment-1 from normal and dystrophic heavy chains indicates the presence of amino acid sequence differences in the two proteins.
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PMID:Abnormal myosin heavy chain variant associated with avian muscular dystrophy. 681 70

M-laminin is a major member of the laminin family of basement membrane proteins. It is prominently expressed in striated muscle and peripheral nerve. M-laminin is deficient in patients with the autosomal recessive Fukuyama congenital muscular dystrophy but is normal in patients with the sex-linked Duchenne and Becker muscular dystrophies. We have examined M-laminin expression in mice with autosomal recessive muscular dystrophy caused by the mutation dy. The heavy chain of M-laminin was undetectable in skeletal muscle, heart muscle, and peripheral nerve by immunofluorescence and immunoblotting in homozygous dystrophic dy/dy mice but was normal in heterozygous and wild-type nondystrophic mice. Immunofluorescence confirmed the presence of other major basement membrane proteins in the dystrophic mice. Very low levels of M-laminin heavy chain mRNA were detected by Northern blotting of muscle and heart tissue from dy/dy mice, suggesting that M-laminin heavy-chain mRNA may be produced at very low levels or is unstable. Information about the chromosomal localization of the M heavy-chain in human and mouse suggests that a mutation in the M-chain gene causes the muscular dystrophy in dy/dy mice. The dy mouse may provide a model for autosomal muscular dystrophies in humans and facilitate studies of functions of M-laminin.
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PMID:Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. 820 29

We studied three new cases of congenital muscular dystrophy (CMD) with homogeneous clinical and laboratory features, represented by congenital muscle hypotonia and weakness, early contractures, elevated serum CK, and dystrophic pattern at muscle biopsy, without clinical impairment of CNS. Merosin, the laminin isoform that contains the alpha 2 heavy chain, was absent in muscle fibers of all the patients by immunohistochemistry and by immunoblot. By electron microscopy, we found a severe disruption of muscle fiber basal lamina, but not of blood vessel basal lamina, which contains the laminin alpha 1 heavy chain isoform. This disruption may play a key role in the degeneration of muscle fibers and in the abnormal proliferation of connective tissue seen in CMD.
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PMID:Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 862 82

In this first article of a series of papers listing first case reports of animal diseases published since 2000, the following 19 cases of dog diseases are discussed: Blastomycotic granuloma involving the cranial vena cava. Congenital myocardial hamartoma. Discospondylitis: three cases caused respectively by Pseudomonas aeruginosa, Enterococcus faecalis and Staphylococcus epidermidis. Dystrophin deficient muscular dystrophy in a Labrador Retriever. Emphysematous prostatitis. Erythema multiforme major caused by a Parvovirus infection of keratinocytes. Hemochromatosis due to repeated blood transfusions. Intraspinal synovial cyst. Juvenile nephropathy in the Collie and the Irish Wolfhound. Primary cerebellar cortical degeneration (abiotrophy) in a Scottish terrier. Primary pulmonary artery chondrosarcoma. Renal dysplasia in a Bull Mastiff. Rhabdomyosarcoma (botryoid sarcoma) of the urinary bladder in a Maltese. Spinal mast cell tumor. Spongiform degeneration of the white matter in the central nervous system of Australian Cattle dog. Systemic pasteurellosis caused by Pasteurella canis. Thymic hemorrhage caused by dicumarol intoxication. Undimerized biclonal gammopathy with a single heavy chain class IgA in a dog with multiple myeloma. After a short introduction, the bibliographical data and the abstract of the author(s) and mostly some additional information derived from the article are given. The article will be regularly updated adding overlooked as well as new first reports.
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PMID:First cases of animal diseases published since 2000. 1. Dogs. 1453 81

The diagnosis of amyotrophic lateral sclerosis (ALS) is difficult due to lack of definitive biomarkers. Our aim was to identify characteristic serum protein patterns that could provide candidate biomarkers for ALS. We divided mutant superoxide dismutase-1 (SOD1)(H46R) rats into three groups based on disease progression: pre-symptom (90 days), onset, and end-stage. After separation of serum proteins using two-dimensional electrophoresis, we selected clear protein spots and identified two candidate proteins-inter-alpha-trypsin inhibitor heavy chain H4 (ITIH4) and glutathione peroxidase 3 (Gpx3). The 120 kDa ITIH4 increased at the onset of the disease and the 85 kDa ITIH4, a cleaved form, at the end-stage in the sera of the SOD1(H46R) rats. Expression of the 85 kDa ITIH4 was substantial in ALS compared with controls or patients with muscular dystrophy, Alzheimer diseases, or Parkinson diseases. The Gpx3 protein levels in the sera of SOD1(H46R) rats were upregulated pre-symptom and gradually decreased as the disease progressed. The Gpx3 protein levels were lower in the sera of the patients with ALS than in other diseases. These results indicate that ITIH4 and Gpx3 are potential biomarkers for ALS.
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PMID:ITIH4 and Gpx3 are potential biomarkers for amyotrophic lateral sclerosis. 2343 19