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Molecular Mechanisms and Cellular Pathways Implicated in Machado-Joseph Disease Pathogenesis

Clévio Nóbrega1,2,3,4, Ana Teresa Simões5, Joana Duarte-Neves5

  • 1Department of Biomedical Sciences and Medicine, University of Algarve, Faro, Portugal. cdnobrega@ualg.pt.

Advances in Experimental Medicine and Biology
|February 11, 2018
PubMed

Insights

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a neurodegenerative disorder caused by MJD1/ATX3 gene CAG repeat expansion. Research is uncovering cellular pathways involved in MJD pathogenesis, identifying potential therapeutic targets.

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Cellular Biology

Background:

  • Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder.
  • It is characterized by the expansion of CAG repeats in the MJD1/ATX3 gene, encoding the protein ataxin-3.
  • The precise pathogenic mechanisms leading to neurodegeneration in MJD remain incompletely understood.

Purpose of the Study:

  • To investigate the molecular mechanisms and cellular pathways implicated in Machado-Joseph disease pathogenesis.
  • To identify potential therapeutic targets for MJD based on deregulated cellular processes.
  • To synthesize current understanding of MJD pathophysiology for future therapeutic development.

Main Methods:

  • Review of existing literature on MJD molecular pathogenesis.
  • Analysis of studies investigating cellular pathways such as autophagy and proteolysis.
  • Examination of research on post-translational modifications in MJD.

Main Results:

  • Several cellular pathways, including autophagy and proteolysis, are identified as impaired or deregulated in MJD.
  • Post-translational modifications of ataxin-3 are implicated in the disease process.
  • These findings highlight key molecular events contributing to MJD neurodegeneration.

Conclusions:

  • Understanding the deregulated cellular pathways in MJD is crucial for elucidating disease mechanisms.
  • Identification of these pathways provides novel targets for therapeutic interventions.
  • Successful therapeutic strategies in disease models suggest potential for clinical application.
Keywords:
Machado-Joseph diseaseMolecular mechanismsPathogenesis

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