Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
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| Abstract |
Nemaline myopathy (NM) is a congenital myopathy characterized by muscle weakness and nemaline bodies in affected myofibers. Five NM genes, all encoding components of the sarcomeric thin filament, are known. We report identification of a sixth gene, CFL2, encoding the actin-binding protein muscle cofilin-2, which is mutated in two siblings with congenital myopathy. The proband's muscle contained characteristic nemaline bodies, as well as occasional fibers with minicores, concentric laminated bodies, and areas of F-actin accumulation. Her affected sister's muscle was reported to exhibit nonspecific myopathic changes. Cofilin-2 levels were significantly lower in the proband's muscle, and the mutant protein was less soluble when expressed in Escherichia coli, suggesting that deficiency of cofilin-2 may result in reduced depolymerization of actin filaments, causing their accumulation in nemaline bodies, minicores, and, possibly, concentric laminated bodies.
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| Authors | Pankaj B Agrawal, Rebecca S Greenleaf, Kinga K Tomczak, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, William Wallefeld, Nigel G Laing, Basil T Darras, Sutherland K Maciver, Philip R Dormitzer, Alan H Beggs |
| Journal | American journal of human genetics (Am J Hum Genet) Vol. 80 Issue 1 Pg. 162-7 (Jan 2007) ISSN: 0002-9297 [Print] United States |
| PMID | 17160903 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't) |
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