Title: T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases | Skeletal Muscle | Full Text
Headings: T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
Abstract
Introduction
T-tubule plasticity
Morphological aspects of triad biogenesis
Sarcoplasmic reticulum
Transverse tubule
Molecular mechanisms involved in T-tubule biogenesis and triad formation and maintenance
Table 1 Proteins implicated in triad organization, roles and associated human diseasesa
Caveolin 3
Amphiphysin 2 (BIN1)
Dysferlin
Mitsugumins
Junctophilins
Myotubularin
The RyR-DHPR complex
Conclusion
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Content: T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases | Skeletal Muscle | Full Text
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Published: 13 July 2011
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
Lama Al-Qusairi
1, 2, 3, 4, 5, 6
&
Jocelyn Laporte
1, 2, 3, 4, 5
Skeletal Muscle
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1, Article number: 26 ( 2011 ) Cite this article
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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. Introduction
To trigger skeletal muscle contraction, the action potential generated by motor neurons is transmitted through motor nerves to muscle cells. The excitation-contraction (EC) coupling, i.e. signal transmission from the sarcolemma to the actin/myosin apparatus, is mediated by a second messenger, calcium ions.