An alphaTropomyosin mutation alters dimer preference in nemaline myopathy

Ann Neurol. 2005 Jan;57(1):42-9. doi: 10.1002/ana.20305.

Abstract

Nemaline myopathy is a human neuromuscular disorder associated with muscle weakness, Z-line accumulations (rods), and myofibrillar disorganization. Disease-causing mutations have been identified in genes encoding muscle thin filament proteins: actin, nebulin, slow troponin T, betaTropomyosin, and alphaTropomyosin(slow). Skeletal muscle expresses three tropomyosin (Tm) isoforms from separate genes: alphaTm(fast)(alphaTm, TPM1), betaTm (TPM2), and alphaTm(slow) (gammaTm, TPM3). In this article, we show that the level of betaTm, but not alphaTm(fast) protein, is reduced in human patients with mutations in alphaTm(slow) and in a transgenic mouse model of alphaTm(slow)(Met9Arg) nemaline myopathy. A postnatal time course of Tm expression in muscles of the mice indicated that the onset of alphaTm(slow)(Met9Arg) expression coincides with the decline of betaTm. Reduction of betaTm levels is independent of the degree of pathology (rods) within a muscle and is detected before the onset of muscle weakness. Thus, reduction in the level of betaTm represents an early clinical diagnostic marker for alphaTm(slow)-based mutations. Examinations of tropomyosin dimer formation using either recombinant proteins or sarcomeric extracts show that the mutation reduces the formation of the preferred alpha/beta heterodimer. We suggest this perturbation of tropomyosin isoform levels and dimer preference alters sarcomeric thin filament dynamics and contributes to muscle weakness in nemaline myopathy.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Arginine / genetics
  • Blotting, Northern / methods
  • Blotting, Western / methods
  • DNA Mutational Analysis / methods
  • Dimerization
  • Disease Models, Animal
  • Gene Expression Regulation / physiology*
  • Humans
  • Methionine / genetics
  • Mice
  • Mice, Transgenic
  • Muscle, Skeletal / metabolism*
  • Mutation*
  • Myopathies, Nemaline / genetics
  • Myopathies, Nemaline / metabolism*
  • Promoter Regions, Genetic / genetics
  • Protein Structure, Secondary / physiology
  • RNA, Messenger / metabolism
  • Recombinant Proteins / metabolism
  • Time Factors
  • Tropomyosin / classification
  • Tropomyosin / genetics
  • Tropomyosin / metabolism*

Substances

  • RNA, Messenger
  • Recombinant Proteins
  • Tropomyosin
  • Arginine
  • Methionine