NMJ-related diseases beyond the congenital myasthenic syndromes

Alejandra Navarro-Martínez; Cristina Vicente-García; Jaime J Carvajal

doi:10.3389/fcell.2023.1216726

NMJ-related diseases beyond the congenital myasthenic syndromes

Front Cell Dev Biol. 2023 Aug 4:11:1216726. doi: 10.3389/fcell.2023.1216726. eCollection 2023.

Authors

Alejandra Navarro-Martínez¹, Cristina Vicente-García¹, Jaime J Carvajal¹

Affiliation

¹ Centro Andaluz de Biología del Desarrollo, CSIC-UPO-JA, Universidad Pablo de Olavide, Sevilla, Spain.

Abstract

Neuromuscular junctions (NMJs) are a special type of chemical synapse that transmits electrical stimuli from motor neurons (MNs) to their innervating skeletal muscle to induce a motor response. They are an ideal model for the study of synapses, given their manageable size and easy accessibility. Alterations in their morphology or function lead to neuromuscular disorders, such as the congenital myasthenic syndromes, which are caused by mutations in proteins located in the NMJ. In this review, we highlight novel potential candidate genes that may cause or modify NMJs-related pathologies in humans by exploring the phenotypes of hundreds of mouse models available in the literature. We also underscore the fact that NMJs may differ between species, muscles or even sexes. Hence the importance of choosing a good model organism for the study of NMJ-related diseases: only taking into account the specific features of the mammalian NMJ, experimental results would be efficiently translated to the clinic.

Keywords: comparative analysis; human disease; mouse models; neuromuscular junction; synaptic transmission.

Publication types

Review

Grants and funding

This work was funded by the Spanish Ministry of Education, Culture and Sports through fellowship PRE2019-091097 to AN-M, an Institutional Grant CEX2020-001088-M (Maria de Maeztu Ecellence Unit, Department of Gene Regulation and Morphogenesis at CABD), an AFM research grant #22447, and PID2020-117058GB-I00 from the Spanish Ministry of Science and Innovation to JC, and ProyExcel_00153 from the Andalusian Government Junta de Andalucia (PAIDI 2020; 2021 call) to CV-G.