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ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
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Matrin3: Disorder and ALS Pathogenesis.

Ahmed Salem1, Carter J Wilson2, Benjamin S Rutledge3

  • 1Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

Frontiers in Molecular Biosciences
|January 27, 2022
PubMed
Summary

Mutations in the gene MATR3 cause familial ALS. The intrinsically disordered protein Matrin3 may misfold and aggregate, contributing to ALS pathogenesis.

Keywords:
ALSMatrin3intrinsically disordered domainsprotein misfoldingproteinopathy

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Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Amyotrophic lateral sclerosis (ALS) involves motor neuron degeneration and protein misfolding.
  • RNA-binding proteins like TDP-43 and FUS are implicated in ALS.
  • Mutations in MATR3 are linked to familial ALS (fALS).

Purpose of the Study:

  • To explore the role of Matrin3's intrinsically disordered regions in ALS pathogenesis.
  • To investigate factors contributing to Matrin3 misfolding and aggregation.

Main Methods:

  • Bioinformatics analyses of Matrin3 structure.
  • Review of existing studies on Matrin3 function and post-translational modifications.

Main Results:

  • Matrin3 contains long intrinsically disordered regions, unlike prion-like domains in other ALS proteins.
  • These regions may promote protein interactions, misfolding, and aggregation.
  • Post-translational modifications (phosphorylation, ubiquitination, acetylation) affect Matrin3 function and misfolding.

Conclusions:

  • The disordered nature of Matrin3 is a key factor in its potential role in ALS.
  • Matrin3 misfolding and aggregation are critical mechanisms in ALS pathogenesis.