Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.
Int J Mol Sci
; 23(11)2022 Jun 03.
Article
em En
| MEDLINE
| ID: mdl-35682949
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Miopatias Congênitas Estruturais
/
Dinamina II
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article