TY - JOUR
T1 - Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
AU - Fujise, Kenshiro
AU - Noguchi, Satoru
AU - Takeda, Tetsuya
N1 - Funding Information:
Funding: This research was funded by JSPS KAKENHI, Grant numbers 18K07198, 19KK0180, The Takeda Science Foundation, Wesco Scientific Promotion Foundation and Ryobi Teien Memory Foundation for T.T. This research was also funded by Intramural Research Grant for Neuronal and Psychiatric Disorders of NCNP (29-4, 2-5 for T.T. and Ichizo Nishino, 2-6, 3-9 for S.N.), and AMED under Grant Numbers JP19ek0109285h0003 for Ichizo Nishino and S.N.
Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/6/1
Y1 - 2022/6/1
N2 - Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients. Previous studies showed that various endocytic proteins are involved in T-tubule biogenesis and their dysfunction is tightly associated with CNM pathogenesis. DNM2 and BIN1 are two causative genes for CNM that encode essential membrane remodelling proteins in endocytosis, dynamin 2 and BIN1, respectively. In this review, we overview the functions of dynamin 2 and BIN1 in T-tubule biogenesis and discuss how their dysfunction in membrane remodelling leads to CNM pathogenesis.
AB - Centronuclear myopathy (CNM) is a congenital myopathy characterised by centralised nuclei in skeletal myofibers. T-tubules, sarcolemmal invaginations required for excitation-contraction coupling, are disorganised in the skeletal muscles of CNM patients. Previous studies showed that various endocytic proteins are involved in T-tubule biogenesis and their dysfunction is tightly associated with CNM pathogenesis. DNM2 and BIN1 are two causative genes for CNM that encode essential membrane remodelling proteins in endocytosis, dynamin 2 and BIN1, respectively. In this review, we overview the functions of dynamin 2 and BIN1 in T-tubule biogenesis and discuss how their dysfunction in membrane remodelling leads to CNM pathogenesis.
KW - BIN1
KW - centronuclear myopathy
KW - dynamin
KW - membrane remodelling
KW - T-tubules
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U2 - 10.3390/ijms23116274
DO - 10.3390/ijms23116274
M3 - Review article
C2 - 35682949
AN - SCOPUS:85131166412
SN - 1661-6596
VL - 23
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
IS - 11
M1 - 6274
ER -