TY - JOUR
T1 - T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
AU - Al-Qusairi, Lama
AU - Laporte, Jocelyn
N1 - Funding Information:
This work was supported by grants from the Institut National de la Santé et de la Recherche Médicale (INSERM), the Centre National de la Recherche Scientifique (CNRS), University of Strasbourg (UdS), Collège de France and the Association Française contre les Myopathies (AFM). L. Al-Qusairi was supported by a fellowship from Fondation pour la Recherche Médicale (FRM).
PY - 2011/7/13
Y1 - 2011/7/13
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84863880791&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84863880791&partnerID=8YFLogxK
U2 - 10.1186/2044-5040-1-26
DO - 10.1186/2044-5040-1-26
M3 - Review article
C2 - 21797990
AN - SCOPUS:84863880791
SN - 2044-5040
VL - 1
JO - Skeletal Muscle
JF - Skeletal Muscle
IS - 1
M1 - 26
ER -