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Metformin improves RAN protein pathology, alternative splicing, and behavioral phenotypes in SCA8 mice.

Lisa El Romano1,2, Setsuki Tsukagoshi1,2, Emily E Davey-Osuch1,2

  • 1Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA.

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|March 2, 2026
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Summary

Metformin shows promise for treating spinocerebellar ataxia type 8 (SCA8) and related repeat expansion disorders. This study found metformin improved motor function and reduced toxic protein production in a mouse model, suggesting potential for clinical trials.

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Area of Science:

  • Neuroscience
  • Genetics
  • Pharmacology

Background:

  • Spinocerebellar ataxia type 8 (SCA8) is a debilitating neurological disease caused by CAG•CTG repeat expansions.
  • Current treatments for SCA8 and related disorders are lacking.
  • RAN translation and RNA gain-of-function effects are implicated in these diseases.

Purpose of the Study:

  • To investigate the therapeutic potential of metformin in a mouse model of SCA8.
  • To evaluate metformin's effects on motor function, RAN translation, RNA splicing, and neuroinflammation.

Main Methods:

  • Utilized SCA8 BAC transgenic mice as a disease model.
  • Assessed ambulatory performance using rotarod, DigiGait, and open-field tests.
  • Analyzed molecular changes including RAN protein levels, RNA splicing, and neuroinflammation markers.

Main Results:

  • Metformin significantly improved motor performance in SCA8 mice.
  • Metformin treatment reduced RAN protein levels and corrected RNA splicing.
  • Reduced neuroinflammation, including astrogliosis and microglial activation, was observed in metformin-treated mice.

Conclusions:

  • Metformin demonstrates significant preclinical efficacy for SCA8.
  • These findings support further investigation of metformin in clinical trials for SCA8.
  • Metformin may offer a therapeutic strategy for a broader range of CAG•CTG repeat expansion disorders.