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.
Highlights
Neuromuscular diseases collectively affect muscle function, either by directly impairing muscle structure or function, or by affecting muscle control by motor neurons
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are two typical diseases of the motor neurons, in which muscle weakness is primarily caused by the degeneration of motor neurons [1]
We describe how mutations in functionally related RNA-binding proteins (RBPs) are associated with both muscle and motor neuron diseases, and how these mutations participate in compromising the neuromuscular system
Summary
Neuromuscular diseases collectively affect muscle function, either by directly impairing muscle structure or function, or by affecting muscle control by motor neurons. Mutations in RNA-binding proteins with prion like domains cause neuromuscular diseases. Heterogenous nuclear ribonucleoprotein; 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.
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