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Open Access Highly Accessed Review

T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

Lama Al-Qusairi123456 and Jocelyn Laporte12345*

Author Affiliations

1 Department of Translational Medecine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 1 rue Laurent Fries, 67404 Illkirch, France

2 Inserm, U964, Illkirch, 1 rue Laurent Fries, 67404, France

3 CNRS, UMR7104, 1 rue Laurent Fries, 67404, Illkirch, France

4 Université de Strasbourg, 1 rue Laurent Fries, 67404, Illkirch, France

5 Collège de France, chaire de génétique humaine, 1 rue Laurent Fries, 67404 Illkirch, France

6 Département de Pharmacologie & Toxicologie, Université de Lausanne, 27 rue du Bugnon, 1005 Lausanne, Switzerland

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Skeletal Muscle 2011, 1:26  doi:10.1186/2044-5040-1-26

Published: 13 July 2011

Abstract

In skeletal muscle, the excitation-contraction (EC) coupling machinery mediates the translation of the action potential transmitted by the nerve into intracellular calcium release and muscle contraction. EC coupling requires a highly specialized membranous structure, the triad, composed of a central T-tubule surrounded by two terminal cisternae from the sarcoplasmic reticulum. While several proteins located on these structures have been identified, mechanisms governing T-tubule biogenesis and triad formation remain largely unknown. Here, we provide a description of triad structure and plasticity and review the role of proteins that have been linked to T-tubule biogenesis and triad formation and/or maintenance specifically in skeletal muscle: caveolin 3, amphiphysin 2, dysferlin, mitsugumins, junctophilins, myotubularin, ryanodine receptor, and dihydhropyridine Receptor. The importance of these proteins in triad biogenesis and subsequently in muscle contraction is sustained by studies on animal models and by the direct implication of most of these proteins in human myopathies.