Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions

Research output: Contribution to journalReview articlepeer-review

Abstract

Pentanucleotide expansion diseases constitute a special class of neurodegeneration. The repeat expansions occur in non-coding regions, have likely arisen from Alu elements, and often re-sult in autosomal dominant or recessive phenotypes with underlying cerebellar neuropathology. When transcribed (potentially bidirectionally), the expanded RNA forms complex secondary and tertiary structures that can give rise to RNA-mediated toxicity, including protein sequestration, pen-tapeptide synthesis, and mRNA dysregulation. Since several of these diseases have recently been discovered, our understanding of their pathological mechanisms is limited, and their therapeutic interventions underexplored. This review aims to highlight new in vitro and in vivo insights into these incurable diseases.

Original languageEnglish (US)
Article number1567
JournalCells
Volume11
Issue number9
DOIs
StatePublished - May 1 2022

Keywords

  • CANVAS
  • microsatellite expansion diseases
  • neurodegeneration
  • pentanucleotide repeats
  • RNA foci
  • SCA10
  • SCA31
  • SCA37
  • spinocerebellar ataxia
  • TDP-43

ASJC Scopus subject areas

  • Medicine(all)

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