Cell Biology Center, Institute of Innovative Research, Tokyo Institute of Technology, 4259 S2-11 Nagatsuta-cho, Midori-ku, Yokohama 226-8503, Japan.
Graduate School of Life Science and Technology, Tokyo Institute of Technology, 4259 S2-11 Nagatsuta-cho, Midori-ku, Yokohama 226-8503, Japan.
J Biochem. 2024 Feb 25;175(2):125-131. doi: 10.1093/jb/mvad083.
A transverse-tubule (T-tubule) is an invagination of the plasma membrane penetrating deep into muscle cells. An extensive membrane network of T-tubules is crucial for rapid and synchronized signal transmission from the cell surface to the entire sarcoplasmic reticulum for Ca2+ release, leading to muscle contraction. T-tubules are also indispensable for the formation and positioning of other muscle organelles. Their structure and physiological roles are relatively well established; however, the mechanisms shaping T-tubules require further elucidation. Centronuclear myopathy (CNM), an inherited muscular disorder, accompanies structural defects in T-tubules. Membrane traffic-related genes, including MTM1 (Myotubularin 1), DNM2 (Dynamin 2), and BIN1 (Bridging Integrator-1), were identified as causative genes of CNM. In addition, causative genes for other muscle diseases are also reported to be involved in the formation and maintenance of T-tubules. This review summarizes current knowledge on the mechanisms of how T-tubule formation and maintenance is regulated.
横管(T 管)是一种深入肌肉细胞的质膜内陷。T 管的广泛膜网络对于从细胞表面快速和同步地将信号传递到整个肌浆网以释放 Ca2+,从而引起肌肉收缩至关重要。T 管对于其他肌肉细胞器的形成和定位也是必不可少的。它们的结构和生理作用已经相对明确;然而,塑造 T 管的机制需要进一步阐明。核性肌病(CNM)是一种遗传性肌肉疾病,伴有 T 管的结构缺陷。包括 MTM1(肌小管素 1)、DNM2(动力蛋白 2)和 BIN1(桥连整合器 1)在内的与膜运输相关的基因被鉴定为 CNM 的致病基因。此外,其他肌肉疾病的致病基因也被报道参与 T 管的形成和维持。本综述总结了目前关于 T 管形成和维持的调节机制的知识。