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DNA mismatch repair in trinucleotide repeat instability.

Jinzhen Guo1, Luping Chen2, Guo-Min Li3

  • 1Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

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|October 28, 2017
PubMed
Summary

DNA mismatch repair (MMR) proteins, including MutSβ, MutLα, and MutLγ, are implicated in trinucleotide repeat instability. This review explores their roles in severe neuromuscular and neurodegenerative disorders caused by repeat expansions.

Keywords:
DNA mismatch repairMutSβneurodegenerative diseasestrinucleotide repeat instability

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neuroscience

Background:

  • Trinucleotide repeat expansions are the genetic cause of over 30 severe neuromuscular and neurodegenerative disorders.
  • While disease mechanisms are partially understood, key features of trinucleotide repeat instability remain elusive.
  • DNA mismatch repair (MMR) is crucial for genome stability, correcting replication errors.

Purpose of the Study:

  • To review the critical roles of DNA mismatch repair (MMR) components in promoting trinucleotide repeat instability.
  • To highlight the involvement of specific MMR proteins, such as MutSβ, MutLα, and MutLγ, in repeat expansion disorders.

Main Methods:

  • Literature review of existing studies on MMR proteins and trinucleotide repeat disorders.
  • Analysis of the functionalImplication of MMR components in DNA repair pathways.
  • Synthesis of current knowledge on the mechanisms linking MMR to repeat instability.

Main Results:

  • MMR proteins, particularly MutSβ, MutLα, and MutLγ, are significantly implicated in the instability of expanded trinucleotide repeats.
  • These MMR factors contribute to the expansion process, exacerbating disease phenotypes.
  • Understanding MMR's role provides insights into the molecular basis of disorders like Huntington's disease and fragile X syndrome.

Conclusions:

  • MMR proteins are key players in the pathogenesis of trinucleotide repeat expansion disorders.
  • Targeting MMR pathways may offer novel therapeutic strategies for these debilitating neurological conditions.
  • Further research into MMR's precise mechanisms in repeat instability is warranted.