Triadopathies: an emerging class of skeletal muscle diseases. Neurotherapeutics 2014 Oct;11(4):773-85
Date
08/30/2014Pubmed ID
25168790Pubmed Central ID
PMC4391390DOI
10.1007/s13311-014-0300-3Scopus ID
2-s2.0-84919781500 (requires institutional sign-in at Scopus site) 51 CitationsAbstract
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.
Author List
Dowling JJ, Lawlor MW, Dirksen RTAuthor
Michael W. Lawlor MD, PhD Adjunct Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AnimalsHumans
Malignant Hyperthermia
Microtubule-Associated Proteins
Muscle Proteins
Muscle, Skeletal
Muscular Diseases
Muscular Dystrophies
Myopathies, Structural, Congenital
Ryanodine Receptor Calcium Release Channel
Selenoproteins
