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
References
Acknowledgements
Author information
Affiliations
Corresponding author
Additional information
Competing interests
Authors' contributions
Authors’ original submitted files for images
Authors’ original file for figure 1
Authors’ original file for figure 2
Authors’ original file for figure 3
Authors’ original file for figure 4
Rights and permissions
About this article
Cite this article
Share this article
Keywords

Content: Morphological aspects of triad biogenesis
Sarcoplasmic reticulum
The SR represents the main calcium store in striated muscle. It is highly specialized to ensure the simultaneous release of intracellular calcium in the entire cytosol of the muscle cell. The first step of SR biogenesis starts by the formation of tubular endoplasmic reticulum (ER) (30-60 nm in diameter) adjacent to the myofibril [ 14 ]. Subsequently, these tubular branches of ER develop into reticular structures surrounding the myofibrils [ 15 ]. Finally, the newly formed SR engages couplings at the A-I interface with the T-tubule originating from the sarcolemma. The molecular determinants implicated in the functional and structural organization of the SR have been reviewed elsewhere [ 16 ]. The chronology of SR biogenesis was well investigated using electron microscopy (EM) during muscle differentiation in mouse [ 17 ]. These observations were also supported by studies employing chicken embryo [ 18 ]. In mouse, the SR is detected from as early as embryonic day 14 (E14) with punctate RyR clusters that are located in the periphery of the myofiber [ 17 ]. At this stage, the content of the feet (RyR) in the junctional SR is poor, and some SR elements without any feet are observed.