1998
DOI: 10.1073/pnas.95.19.11312
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Abstract: Mice lacking desmin produce muscle fibers with Z disks and normal sarcomeric organization. However, the muscles are mechanically fragile and degenerate upon repeated contractions. We report here a human patient with severe generalized myopathy and aberrant intrasarcoplasmic accumulation of desmin intermediate filaments. Muscle tissue from this patient lacks the wild-type desmin allele and has a desmin gene mutation encoding a 7-aa deletion within the coiled-coil segment of the protein. We show that recombinant… Show more

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Cited by 240 publications
(181 citation statements)
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“…10 Although the p.Ala213Val substitution was seen in four control individuals of 199 tested 40 and 2 of 86 analysed for another study, 38 the information generated so far supports the idea that this may be a modifying functional polymorphism. Although p.Ala213Val desmin created a filamentous network in SW13 cells and preserved the existing network in the C2C12 cells, 40 filament assembly experiments showed it aggregated in the viscometer; in the BMGE +H cells, the p.Ala213Val filaments were bundle-like, suggesting that the pathomechanisms of this mutation probably involve subtle but critical interactions with non-IF components in muscle cells.…”
Section: Mutations In the 1b Segment Of Desminmentioning
confidence: 71%
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“…10 Although the p.Ala213Val substitution was seen in four control individuals of 199 tested 40 and 2 of 86 analysed for another study, 38 the information generated so far supports the idea that this may be a modifying functional polymorphism. Although p.Ala213Val desmin created a filamentous network in SW13 cells and preserved the existing network in the C2C12 cells, 40 filament assembly experiments showed it aggregated in the viscometer; in the BMGE +H cells, the p.Ala213Val filaments were bundle-like, suggesting that the pathomechanisms of this mutation probably involve subtle but critical interactions with non-IF components in muscle cells.…”
Section: Mutations In the 1b Segment Of Desminmentioning
confidence: 71%
“…Misfolded desmin resists turnover by the cellular enzymatic machinery. 7 Identification of multiple causative mutations in the DES gene 6,[9][10][11] helped to establish desminopathy as a distinct disease. The second genetically independent subset of desminopathy is myopathy associated with mutations in CRYAB, a chaperone that normally stabilizes proteins including desmin and prevents their irreversible aggregation.…”
Section: Introductionmentioning
confidence: 99%
“…Desmin mutations can result in various myopathies that are characterized by desmin network disorganization, accumulation of insoluble desmin‐containing aggregates, and sarcomere disarray 9, 36, 37. Expression of the 7 amino acid deletion (R173–E179) mutation in desmin leads to a desminopathy characterized by defects in skeletal, cardiac, and smooth muscle 38, 39. These patients are at risk for cerebrovascular accidents and may develop generalized muscle weakness, respiratory failure, and intestinal pseudo‐obstruction that can lead to death 38, 39.…”
Section: Discussionmentioning
confidence: 99%
“…Expression of the 7 amino acid deletion (R173–E179) mutation in desmin leads to a desminopathy characterized by defects in skeletal, cardiac, and smooth muscle 38, 39. These patients are at risk for cerebrovascular accidents and may develop generalized muscle weakness, respiratory failure, and intestinal pseudo‐obstruction that can lead to death 38, 39. Ultrastructural analysis of postmortem muscles show characteristic myofibrillar disruption and aggregation of desmin filaments in the myocardium 38, 39.…”
Section: Discussionmentioning
confidence: 99%
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