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: Moreover, this observation is specific to transverse tubule membranes, as no other intracellular membrane systems appear to be involved [ 12 ], probably due to the fact that their lumen connects to the extracellular space. Figure 2
Dynamics of T-tubule vacuolation produced by the efflux of glycerol. A single frog skeletal muscle fiber stained with a lipophilic fluorescence probe is shown. Shown are serial confocal microscopic images of the same fiber (a) 5 minutes, (b) 12 minutes and (c) 30 minutes after the fiber was transferred from a solution containing 110 mM glycerol to a solution without glycerol (reprinted from [ 10 ]; © 2001 with permission from Elsevier). Full size image
In addition to this artificial condition, this vacuolation phenomenon is observed upon muscle fatigue or diseases [ 10, 13 ]. Based on this plasticity and on the large membrane surface of the T-tubules network which corresponds to about 80% of the sarcolemma surface, several functions non-related to EC coupling are proposed for the T-tubules system [ 10, 13 ]. These include: i) water balance and regulation of cell volume, ii) recovery from muscle fatigue, iii) transport pathways including endocytosis, exocytosis and the penetration of foreign DNA. The molecular mechanisms involved in these processes are still to be investigated.