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Order controls disordered droplets: structure-function relationships in C9ORF72-derived poly(PR).

Kohsuke Kanekura1, Yuhei Hayamizu2, Masahiko Kuroda1

  • 1Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan.

American Journal of Physiology. Cell Physiology
|December 15, 2021
PubMed
Summary

Hexanucleotide repeat expansions in C9ORF72 cause ALS and FTD. Arg-rich dipeptide repeat proteins from RAN translation contribute to neurodegeneration, with Arg distribution influencing toxicity in ALS pathogenesis.

Keywords:
ALSC9ORF72dipeptide repeat proteins (DRPs)phase separation

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are distinct neurodegenerative diseases.
  • Genetic and pathological overlaps are increasingly recognized between ALS and FTD.
  • Hexanucleotide repeat expansions in C9ORF72 are a primary genetic cause for familial ALS and FTD.

Purpose of the Study:

  • To review the pathophysiology of Arg-rich C9ORF72 dipeptide repeat proteins (DRPs).
  • To discuss recent findings on how Arg distribution determines DRP toxicity.
  • To elucidate the contribution of Arg-rich DRPs to ALS pathogenesis.

Main Methods:

  • Review of existing literature on C9ORF72, RAN translation, and DRPs.
  • Analysis of molecular interactions mediated by arginine.
  • Examination of cellular and animal models of neurodegeneration.

Main Results:

  • C9ORF72 repeat expansions lead to RAN translation, producing toxic Arg-rich DRPs.
  • Arginine's properties facilitate interactions with nucleic acids and other molecules.
  • Arg-rich DRPs induce neurodegeneration through various mechanisms.
  • The distribution of Arg residues influences the toxicity of DRPs.

Conclusions:

  • Arg-rich DRPs are key players in the pathophysiology of C9ORF72-associated ALS and FTD.
  • Arg distribution is a critical factor determining the neurotoxic potential of these DRPs.
  • Understanding Arg-mediated interactions is crucial for developing therapeutic strategies for ALS.