The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome

Xufeng Liao; Yingxing Wang; Xinsheng Lai; Shunqi Wang

doi:10.17305/bb.2022.8641

Authors

Xufeng Liao Institute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China
Yingxing Wang Institute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China
Xinsheng Lai Institute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China; School of Basic Medical Sciences, Nanchang University, Nanchang, China
Shunqi Wang Institute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China; School of Basic Medical Sciences, Nanchang University, Nanchang, China

DOI:

https://doi.org/10.17305/bb.2022.8641

Keywords:

Rapsyn, neuromuscular junction (NMJ), congenital myasthenic syndrome (CMS), mutation, medication, central nervous system (CNS)

Abstract

Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic acetylcholine receptor clustering and maintenance. Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of the reasons causing the pathogenies of congenital myasthenic syndrome (CMS). In addition, there is little research on Rapsyn in the central nervous system (CNS). In this review, the role of Rapsyn in the NMJ formation and the mutation of Rapsyn leading to CMS will be reviewed separately and sequentially. Finally, the potential function of Rapsyn is prospected.