ClC-1 Chloride channel: Inputs on the structure–function relationship of myotonia congenita-causing mutations

 

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Detalles Bibliográficos
Autores: Brenes García, Oscar Gerardo, Pusch, Michael, Morales Montero, Fernando
Formato: artículo original
Fecha de Publicación:2023
Descripción:Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and hypertrophy. Mutations in the chloride voltage-gated channel 1 (CLCN1) gene that encodes the skeletal muscle chloride channel (ClC-1) are responsible for this disease, which is commonly known as myotonic chloride channelopathy. The biophysical properties of the mutated channel have been explored and analyzed through in vitro approaches, providing important clues to the general function/dysfunction of the wild-type and mutated channels. After an exhaustive search for CLCN1 mutations, we report in this review more than 350 different mutations identified in the literature. We start discussing the physiological role of the ClC-1 channel in skeletal muscle functioning. Then, using the reported functional effects of the naturally occurring mutations, we describe the biophysical and structural characteristics of the ClC-1 channel to update the knowledge of the function of each of the ClC-1 helices, and finally, we attempt to point out some patterns regarding the effects of mutations in the different helices and loops of the protein.
País:Kérwá
Institución:Universidad de Costa Rica
Repositorio:Kérwá
Lenguaje:Inglés
OAI Identifier:oai:kerwa.ucr.ac.cr:10669/90102
Acceso en línea:https://www.mdpi.com/2227-9059/11/10/2622
https://hdl.handle.net/10669/90102
Palabra clave:MUTATION
ELECTROPHYSIOLOGY
MYOTONIA
CHLORIDE