Triadopathies: An Emerging Class Of Skeletal Muscle Diseases

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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.

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Figures

Fig. 1

Fig. 1

Structure and function of the…

Fig. 1

Structure and function of the triad. (A) The triad is a structure formed…

Fig. 1 Structure and function of the triad. (A) The triad is a structure formed by the interface between the T-tubule and 2 portions of the sarcoplasmic reticulum (SR). It is normally seen on electron microscopy of longitudinal sections as a triplet of structures (arrows) between myofibrils and slightly offset from the Z-line. In triadopathies such as myotubular myopathy (MTM), the triad may be absent or disorganized. (B) The triad is a critical structure in the process of excitation–contractions coupling whereby electrical impulses (arrows) travel down in the membrane and into the T-tubules. Interaction between the dihydropyridine receptor (DHPR) in the T-tubule and the ryanodine receptor (RYR) in the SR produces the release of calcium from the SR into the sarcoplasm. This calcium then participates in a variety of cellular processes, including, especially, muscle contraction
Fig. 2

Fig. 2

Pathological findings associated with triadopathies.…

Fig. 2

Pathological findings associated with triadopathies. (A–D) Representative histopathologic changes in specific ryanodine receptor…

Fig. 2 Pathological findings associated with triadopathies. (A–D) Representative histopathologic changes in specific ryanodine receptor (RYR1)-related myopathies. Micrographs depict (A) centronuclear myopathy (CNM), (B) multiminicore disease (MMC), and (C, D) central core disease (CCD). (E–I) Histopathologic images from cases of myotubular myopathy caused by myotubularin (MTM1) mutations. Depicted are (E) myofiber hypotrophy, (F) mitochondrial mislocalization, and (G) necklace fibers. (H) Characteristic radial strands, as typically seen in CNM due to DNM2 mutation. (I) Electron micrograph of tubular aggregates from an individual with tubular aggregate myopathy. Stains shown on light microscopy images are either hematoxylin and eosin (red/blue) or nicotinamide adenine dinucleotide (blue). Bar = 40 μm for light microscopy and 2 μm for electron microscopy images
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References

    1. Engel A, Franzini-Armstrong C. Myology: basic and clinical. 3. New York: McGraw-Hill; 2004.
    1. Melzer W, Herrmann-Frank A, Luttgau HC. The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres. Biochim Biophys Acta. 1995;1241:59–116. - PubMed
    1. Rossi AE, Dirksen RT. Sarcoplasmic reticulum: the dynamic calcium governor of muscle. Muscle Nerve. 2006;33:715–731. - PubMed
    1. Nance JR, Dowling JJ, Gibbs EM, Bonnemann CG. Congenital myopathies: an update. Curr Neurol Neurosci Rep. 2012;12:165–174. - PMC - PubMed
    1. Rosenberg H, Davis M, James D, Pollock N, Stowell K. Malignant hyperthermia. Orphanet J Rare Dis. 2007;2:21. - PMC - PubMed
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  • 1K08AR059750/AR/NIAMS NIH HHS/United States
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