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Evaluating noncoding nucleotide repeat expansions in amyotrophic lateral sclerosis.

Matthew D Figley1, Anna Thomas2, Aaron D Gitler3

  • 1Department of Genetics, Stanford University School of Medicine, Standford, CA, USA; Stanford Neuroscience Graduate Program, Stanford University School of Medicine, Stanford, CA, USA.

Neurobiology of Aging
|November 26, 2013
PubMed
Summary
This summary is machine-generated.

Noncoding repeat expansions in six genes do not appear to be a risk factor for amyotrophic lateral sclerosis (ALS). This study found no association between repeat length variations and ALS, suggesting other genetic factors are involved.

Keywords:
ALSAtaxinNoncodingNucleotide repeat expansionpolyQ

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Intermediate-length polyglutamine expansions in ataxin 2 (ATXN2) are a known risk factor for amyotrophic lateral sclerosis (ALS).
  • Noncoding nucleotide repeat expansions, such as in C9ORF72, are also implicated in ALS pathogenesis.
  • The potential contribution of noncoding repeat expansions in other genes to ALS risk remains largely unexplored.

Purpose of the Study:

  • To investigate the role of noncoding nucleotide repeat expansions in the etiology of sporadic amyotrophic lateral sclerosis (ALS).
  • To assess whether variations in repeat lengths of specific genes are associated with ALS susceptibility.

Main Methods:

  • Analysis of nucleotide repeat lengths in six genes (ATXN8, ATXN10, PPP2R2B, NOP56, DMPK, and JPH3) previously linked to neurological disorders.
  • Comparison of repeat lengths between several hundred sporadic ALS patients and healthy control subjects.

Main Results:

  • No statistically significant association was found between the repeat lengths of the analyzed genes and the risk of developing amyotrophic lateral sclerosis (ALS).
  • Variations in the noncoding repetitive regions of ATXN8, ATXN10, PPP2R2B, NOP56, DMPK, and JPH3 do not appear to contribute to ALS pathogenesis.

Conclusions:

  • Noncoding nucleotide repeat expansions in the studied genes are unlikely to be a significant risk factor for sporadic amyotrophic lateral sclerosis (ALS).
  • These findings suggest that other genetic mechanisms, beyond noncoding repeat expansions in these specific genes, are involved in ALS development.