Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases
Authors:Gina Picchiarelli1 and Luc Dupuis1
1 Université de Strasbourg, INSERM, Mécanismes Centraux et Périphériques de la Neurodégénérescence, UMR_S 1118, Strasbourg, France.
Keywords:
RNA-Binding Protein (RBP), Muscle, Dystrophy, Amyotrophic lateral sclerosis (ALS), Spinal muscular atrophy (SMA), Inclusion body myopathy (IBM), Fragile X-associated tremor / ataxia syndrome (FXTAS), Multisystem proteinopathy (MSP), Huntington’s disease.
Abbreviatons:
AchR – acetylcholine receptor;
ALS – amyotrophic lateral sclerosis;
FTD – fronto-temporal dementia;
hnRNP – heterogenous nuclear ribo-nucleoprotein;
IBM – Inclusion body myositis;
NMJ – neuromuscular junction;
OPMD – oculopharyngeal muscular dystrophy;
PrLD – prion-like domain;
RBP – RNA binding protein;
RGG – Arginine-Glycine-Glycine rich domain;
SMA – spinal muscular atrophy;
SMN – survival of motor neurons.
Corresponding Author(s):
Conflict of interest statement:
The authors declare no conflict of interest.
Please cite this article as:
Gina Picchiarelli and Luc Dupuis (2020). Role of RNA Binding Proteins with prion-like domains in muscle and neuro-muscular diseases. Cell Stress 4(4): 76-91. doi: 10.15698/cst2020.04.217
© 2020 Picchiarelli and Dupuis. This is an open-access article released under the terms of the Creative Commons Attribution (CC BY) license, which allows the unrestricted use, distribution, and reproduc-tion in any medium, provided the original author and source are acknowledged.
Abstract:
A number of neuromuscular and muscular diseases, including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and several myopathies, are associated to mutations in related RNA-binding proteins (RBPs), including TDP-43, FUS, MATR3 or hnRNPA1/B2. These proteins harbor similar modular primary sequence with RNA binding motifs and low complexity domains, that enables them to phase separate and create liquid microdomains. These RBPs have been shown to critically regulate multiple events of RNA lifecycle, including transcriptional events, splicing and RNA trafficking and sequestration. Here, we review the roles of these disease-related RBPs in muscle and motor neurons, and how their dysfunction in these cell types might contribute to disease.