| Autor: |
Agrawal PB; Genomics Program, the Divisions of Genetics and Neonatology, Children's Hospital Boston, Boston, MA, 02115, USA., Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of human genetics [Am J Hum Genet] 2007 Jan; Vol. 80 (1), pp. 162-7. Date of Electronic Publication: 2006 Nov 14. |
| DOI: |
10.1086/510402 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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