Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

Am J Hum Genet. 2007 Jan;80(1):162-7. doi: 10.1086/510402. Epub 2006 Nov 14.

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / metabolism
  • Child
  • Child, Preschool
  • Cofilin 2 / genetics*
  • Cofilin 2 / physiology
  • Escherichia coli / metabolism
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / physiology
  • Models, Molecular
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation
  • Myofibrils / metabolism
  • Myofibrils / pathology*
  • Myopathies, Nemaline / genetics*
  • Myopathies, Nemaline / pathology
  • Pedigree
  • Phosphorylation

Substances

  • Actins
  • CFL2 protein, human
  • Cofilin 2
  • Microfilament Proteins