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Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2.

Lance T Pflieger1, Warunee Dansithong2, Sharan Paul2

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|May 20, 2017
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Summary
This summary is machine-generated.

Spinocerebellar ataxia type 2 (SCA2) results from ATXN2 gene CAG repeat expansion. Our study in ATXN2Q127 mice indicates SCA2 is a gain-of-function disease, not loss-of-function, impacting cerebellar gene expression.

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Area of Science:

  • Neurodegenerative diseases
  • Genetics
  • Molecular biology

Background:

  • Spinocerebellar ataxia type 2 (SCA2) is an inherited neurodegenerative disorder.
  • It is caused by expanded CAG repeats in the ATXN2 gene, leading to polyglutamine expansion.
  • The ATXN2 protein's role in SCA2 pathogenesis is primarily attributed to a gain-of-function mechanism.

Purpose of the Study:

  • To investigate the temporal cerebellar gene expression profiles in ATXN2Q127 mice, a model for SCA2.
  • To determine whether SCA2 pathogenesis involves gain-of-function or loss-of-function mechanisms of the ATXN2 protein.
  • To identify specific molecular pathways affected in the SCA2 cerebellum.

Main Methods:

  • RNA sequencing was performed on cerebellar tissue from ATXN2Q127 mice and wild-type littermates.
  • Weighted Gene Coexpression Network Analysis (WGCNA) was used to identify gene modules correlated with disease status.
  • Differential gene expression analysis was conducted by comparing ATXN2Q127 mice to wild-type littermates and Atxn2-/- knockout mice to wild-type littermates.

Main Results:

  • ATXN2Q127 mice exhibit progressive motor, molecular, and neurophysiological phenotypes in the cerebellum.
  • Early and progressive abnormal cerebellar gene expression patterns were identified.
  • Four gene modules significantly correlated with disease status were found, primarily involving GTPase signaling, calcium signaling, and cell death pathways.
  • Few differentially expressed genes overlapped between ATXN2Q127 mice and Atxn2-/- knockout mice, suggesting loss-of-function is not a major contributor.

Conclusions:

  • Spinocerebellar ataxia type 2 is characterized by a gain-of-function mechanism of the ATXN2 protein.
  • The study reveals novel molecular pathways affected in the SCA2 cerebellum.
  • Loss-of-function of ATXN2 is unlikely to be a significant factor in SCA2 pathology.