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

被引:119
作者
Al-Qusairi, Lama [1 ,2 ,3 ,4 ,5 ,6 ]
Laporte, Jocelyn [1 ,2 ,3 ,4 ,5 ]
机构
[1] IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, France
[2] INSERM, U964, F-67404 Illkirch Graffenstaden, France
[3] CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France
[4] Univ Strasbourg, F-67404 Illkirch Graffenstaden, France
[5] Coll France, Chaire Genet Humaine, F-67404 Illkirch Graffenstaden, France
[6] Univ Lausanne, Dept Pharmacol & Toxicol, CH-1005 Lausanne, Switzerland
来源
SKELETAL MUSCLE | 2011年 / 1卷
关键词
Sarcoplasmic Reticulum; Familial Hypertrophic Cardiomyopathy; Terminal Cisterna; Centronuclear Myopathy; Myotubular Myopathy;
D O I
10.1186/2044-5040-1-26
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
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.
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页数:11
相关论文
共 107 条
[1]   T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase [J].
Al-Qusairi, Lama ;
Weiss, Norbert ;
Toussaint, Anne ;
Berbey, Celine ;
Messaddeq, Nadia ;
Kretz, Christine ;
Sanoudou, Despina ;
Beggs, Alan H. ;
Allard, Bruno ;
Mandel, Jean-Louis ;
Laporte, Jocelyn ;
Jacquemond, Vincent ;
Buj-Bello, Anna .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (44) :18763-18768
[2]  
Ampong Beryl N, 2005, Acta Myol, V24, P134
[3]   Defective membrane repair in dysferlin-deficient muscular dystrophy [J].
Bansal, D ;
Miyake, K ;
Vogel, SS ;
Groh, S ;
Chen, CC ;
Williamson, R ;
McNeil, PL ;
Campbell, KP .
NATURE, 2003, 423 (6936) :168-172
[4]   A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B [J].
Bashir, R ;
Britton, S ;
Strachan, T ;
Keers, S ;
Vafiadaki, E ;
Lako, M ;
Richard, I ;
Marchand, S ;
Bourg, N ;
Argov, Z ;
Sadeh, M ;
Mahjneh, I ;
Marconi, G ;
Passos-Bueno, MR ;
Moreira, ED ;
Zatz, M ;
Beckmann, JS ;
Bushby, K .
NATURE GENETICS, 1998, 20 (01) :37-42
[5]   Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease [J].
Betz, RC ;
Schoser, BGH ;
Kasper, D ;
Ricker, K ;
Ramírez, A ;
Stein, V ;
Torbergsen, T ;
Lee, YA ;
Nöthen, MM ;
Wienker, TF ;
Malin, JP ;
Propping, P ;
Reis, A ;
Mortier, W ;
Jentsch, TJ ;
Vorgerd, M ;
Kubisch, C .
NATURE GENETICS, 2001, 28 (03) :218-219
[6]   Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization [J].
Bevilacqua, J. A. ;
Monnier, N. ;
Bitoun, M. ;
Eymard, B. ;
Ferreiro, A. ;
Monges, S. ;
Lubieniecki, F. ;
Taratuto, A. L. ;
Laquerriere, A. ;
Claeys, K. G. ;
Marty, I. ;
Fardeau, M. ;
Guicheney, P. ;
Lunardi, J. ;
Romero, N. B. .
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 (03) :271-284
[7]   Mutations in dynamin 2 cause dominant centronuclear myopathy [J].
Bitoun, M ;
Maugenre, S ;
Jeannet, PY ;
Lacène, E ;
Ferrer, X ;
Laforêt, P ;
Martin, JJ ;
Laporte, J ;
Lochmüller, H ;
Beggs, AH ;
Fardeau, M ;
Eymard, B ;
Romero, NB ;
Guicheney, P .
NATURE GENETICS, 2005, 37 (11) :1207-1209
[8]   Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B [J].
Bittner, RE ;
Anderson, LVB ;
Burkhardt, E ;
Bashir, R ;
Vafiadaki, E ;
Ivanova, S ;
Raffelsberger, T ;
Maerk, I ;
Höger, H ;
Jung, M ;
Karbasiyan, M ;
Storch, M ;
Lassmann, H ;
Moss, JA ;
Davison, K ;
Harrison, R ;
Bushby, KMD ;
Reis, A .
NATURE GENETICS, 1999, 23 (02) :141-142
[9]   Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway [J].
Blondeau, F ;
Laporte, J ;
Bodin, S ;
Superti-Furga, G ;
Payrastre, B ;
Mandel, JL .
HUMAN MOLECULAR GENETICS, 2000, 9 (15) :2223-2229
[10]   Defective maintenance of intracellular Ca2+ homeostasis is linked to increased muscle fatigability in the MG29 null mice [J].
Brotto, MAP ;
Nagaraj, RY ;
Brotto, LS ;
Takeshima, H ;
Ma, JJ ;
Nosek, TM .
CELL RESEARCH, 2004, 14 (05) :373-378