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)

In murine muscular dystrophy, hindlimb muscle contains a functionally defective thiol protease inhibitor (TPI) which has been implicated in the onset and progression of the disease in mice. More recently, this protease inhibitor has been identified as parvalbumin, a calcium binding protein. In this study, a polyclonal antibody against mouse muscle parvalbumin was used to study the concentration and distribution of this protein in normal and dystrophic male mice at various ages. Immunodetection assays were used to screen extracts of hindlimb, forelimb, brain, heart, lung, liver, and kidney in 60-day-old normal and dystrophic male mice for parvalbumin content. Parvalbumin was detected in relatively high amounts in both hindlimb and forelimb muscle extracts, while much lower concentrations were detected in brains of normal and dystrophic animals. No parvalbumin was detected in the lung, liver, heart, or kidney extracts using the immunoassay. With aging, the parvalbumin concentration in hindlimb muscle of normal mice remained fairly constant for 90 days, whereupon the level increased at 120 days. In contrast, the parvalbumin concentration in hindlimb muscle of dystrophic mice decreased steadily with age to about 22%% of normal animals at 120 days. The parvalbumin content was also reduced in dystrophic brain.
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PMID:Age-related changes and tissue distribution of parvalbumin in normal and dystrophic mice of strain 129 ReJ. 185 61

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