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Linking hnRNP Function to ALS and FTD Pathology.

Maria D Purice1, J Paul Taylor1,2

  • 1Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, United States.

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|June 6, 2018
PubMed
Summary
This summary is machine-generated.

Heterogeneous nuclear ribonucleoproteins (hnRNPs) are central to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations and altered dynamics of these RNA-binding proteins, particularly in stress granules, drive disease pathology.

Keywords:
amyotrophic lateral sclerosisfrontotemporal dementiahnRNPsmembraneless organellesstress granules

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Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) share genetic links.
  • Heterogeneous nuclear ribonucleoproteins (hnRNPs) are implicated in ALS and FTD pathobiology.
  • Mutations in hnRNPs are found in familial ALS and FTD cases.

Purpose of the Study:

  • Review the function of key hnRNPs (TDP-43, FUS, hnRNP A1, hnRNP A2B1, MATR3, TIA1).
  • Discuss the pathogenic roles of these proteins in ALS and FTD.
  • Explore the link between hnRNPs, membraneless organelles, and stress granules in disease.

Main Methods:

  • Literature review of genetic and molecular studies.
  • Analysis of protein structure-function relationships.
  • Examination of cellular mechanisms involving hnRNPs and stress granules.

Main Results:

  • hnRNPs are consistently found in pathological inclusions in ALS and FTD tissues.
  • Low complexity sequence domains (LCDs) of hnRNPs are linked to membraneless organelle formation.
  • Altered dynamics of these organelles, especially stress granules, are proposed disease drivers.

Conclusions:

  • Perturbed hnRNP biology is a central mechanism in ALS and FTD.
  • Mutations and aberrant stress granule dynamics involving hnRNPs contribute significantly to neurodegeneration.
  • Further research into hnRNP function and regulation is crucial for understanding and treating these diseases.