Triadopathies: an emerging class of skeletal muscle diseases

Neurotherapeutics. 2014 Oct;11(4):773-85. doi: 10.1007/s13311-014-0300-3.

Abstract

The triad is a skeletal muscle substructure responsible for the regulation of excitation-contraction coupling. It is formed by the close apposition of the T-tubule and the terminal sarcoplasmic reticulum. A rapidly growing list of skeletal myopathies, here referred to as triadopathies, are caused by gene mutations in components of the triad. These disorders, at their root, are caused by defects in excitation contraction coupling and intracellular calcium homeostasis. Secondary abnormalities in triad structure and/or function are also reported in several muscle diseases, most notably certain muscular dystrophies. This review highlights the current understanding of both primary and secondary triadopathies, and identifies important concepts yet to be fully addressed in the field. The emphasis of the review is both on the pathogenesis of triadopathies and their potential treatment.

Publication types

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

MeSH terms

  • Animals
  • Humans
  • Malignant Hyperthermia / genetics
  • Microtubule-Associated Proteins / genetics
  • Muscle Proteins / genetics*
  • Muscle, Skeletal / metabolism*
  • Muscular Diseases / genetics*
  • Muscular Dystrophies / genetics
  • Myopathies, Structural, Congenital / genetics
  • Ryanodine Receptor Calcium Release Channel / genetics
  • Selenoproteins / genetics

Substances

  • CCDC78 protein, human
  • Microtubule-Associated Proteins
  • Muscle Proteins
  • Ryanodine Receptor Calcium Release Channel
  • SELENON protein, human
  • Selenoproteins