Chloride and CLC-1: Fundamental actors in skeletal muscle physiology and its relation with the pathophysiology of congenital myotonia

Abstract

Objective: the main objective of this paper focuses on the structural and functional characterization of the ClC-1 protein, in addition to the electrophysiological aspects of this channel in healthy and pathological contexts. Method: a bibliographic search of indexed scientific articles was carried out in the Pubmed database. Results: ClC-1 is a transmembrane protein that functions as a selective channel to chloride and it is mainly expressed in skeletal muscle. This channel is responsible for the sarcolemma's high conductance to chloride (G_cl), which is intimately related to the electrical excitability of this tissue, playing a main role in its resting membrane potential and repolarization. Mutations that abolish or reduce sarcolemmal chloride currents might degenerate in pathophysiological and clinical consequences in humans and other mammals. Discussion:  it was found that there is variability in the graphic representation of the domains of ClC-1 and in the phenotypic description of congenital myopathy, in addition to a lack of knowledge of the role of ClC-1 in other organs. Conclusion: the advance in the knowledge of the functional defects of ClC-1 and its relationship with congenital myotonia would allow a deeper understanding of its pathophysiology and could be directed towards a translational medicine approach.