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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1998-10-22
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pubmed:databankReference |
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pubmed:abstractText |
Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a large French pedigree to a 26-cM interval in chromosome 11q21-23. This region contains the alphaB-crystallin gene (CRYAB), a candidate gene encoding a 20-kD protein that is abundant in lens and is also present in a number of non-ocular tissues, including cardiac and skeletal muscle. AlphaB-crystallin is a member of the small heat shock protein (shsp) family and possesses molecular chaperone activity. We identified an R120G missense mutation in CRYAB that co-segregates with the disease phenotype in this family. Muscle cell lines transfected with the mutant CRYAB cDNA showed intracellular aggregates that contain both desmin and alphaB-crystallin as observed in muscle fibers from DRM patients. These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:CaronAA,
pubmed-author:ChaponFF,
pubmed-author:ChateauDD,
pubmed-author:DupretJ MJM,
pubmed-author:FardeauMM,
pubmed-author:FaureAA,
pubmed-author:GuicheneyPP,
pubmed-author:MASS,
pubmed-author:PaulinDD,
pubmed-author:PrévostM CMC,
pubmed-author:ToméFF,
pubmed-author:VicartPP
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pubmed:issnType |
Print
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
92-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9731540-Animals,
pubmed-meshheading:9731540-Base Sequence,
pubmed-meshheading:9731540-Cell Line,
pubmed-meshheading:9731540-Cloning, Molecular,
pubmed-meshheading:9731540-Cricetinae,
pubmed-meshheading:9731540-Crystallins,
pubmed-meshheading:9731540-Desmin,
pubmed-meshheading:9731540-Female,
pubmed-meshheading:9731540-Genetic Markers,
pubmed-meshheading:9731540-Heat-Shock Proteins,
pubmed-meshheading:9731540-Humans,
pubmed-meshheading:9731540-Lod Score,
pubmed-meshheading:9731540-Male,
pubmed-meshheading:9731540-Microscopy, Immunoelectron,
pubmed-meshheading:9731540-Molecular Chaperones,
pubmed-meshheading:9731540-Molecular Sequence Data,
pubmed-meshheading:9731540-Muscle, Skeletal,
pubmed-meshheading:9731540-Muscular Diseases,
pubmed-meshheading:9731540-Mutation,
pubmed-meshheading:9731540-Pedigree,
pubmed-meshheading:9731540-Polymerase Chain Reaction,
pubmed-meshheading:9731540-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9731540-Recombinant Proteins
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pubmed:year |
1998
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pubmed:articleTitle |
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
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pubmed:affiliation |
Institut Pasteur, Paris, France. pvicart@pasteur.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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