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Hum Mol Genet ; 26(R2): R91-R104, 2017 10 01.
Artículo en Inglés | MEDLINE | ID: mdl-28977445

RESUMEN

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting motoneurons in the brain and spinal cord leading to paralysis and death. Although the etiology of ALS remains poorly understood, abnormal protein aggregation and altered proteostasis are common features of sporadic and familial ALS forms. The proteostasis network is decomposed into different modules highly conserved across species and comprehends a collection of mechanisms related to protein synthesis, folding, trafficking, secretion and degradation that is distributed in different compartments inside the cell. Functional studies in various ALS models are revealing a complex scenario where distinct and even opposite effects in disease progression are observed depending on the targeted component of the proteostasis network. Importantly, alteration of the folding capacity of the endoplasmic reticulum (ER) is becoming a common pathological alteration in ALS, representing one of the earliest defects observed in disease models, contributing to denervation and motoneuron dysfunction. Strategies to target-specific components of the proteostasis network using small molecules and gene therapy are under development, and promise interesting avenues for future interventions to delay or stop ALS progression.


Asunto(s)
Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/fisiopatología , Proteostasis/fisiología , Animales , Autofagia/fisiología , Humanos , Neuronas Motoras/metabolismo , Agregación Patológica de Proteínas/fisiopatología , Pliegue de Proteína , Transporte de Proteínas/fisiología , Factores de Riesgo , Médula Espinal/metabolismo , Ubiquitinación
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