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Published on: May 16, 2017

RANTing about C9orf72.

Tammaryn Lashley1, John Hardy, Adrian M Isaacs

  • 1Reta Lila Weston Laboratories and Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK.

Neuron
|February 27, 2013
PubMed
Summary
This summary is machine-generated.

A common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, the C9orf72 gene repeat expansion, is translated into toxic proteins. These proteins form widespread neuronal aggregates, contributing to neurodegeneration.

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • The C9orf72 gene repeat expansion is the most frequent genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS).
  • Previously, the repeat expansion was considered to be non-functional due to its noncoding nature.

Discussion:

  • Ash et al. demonstrate that noncoding repeat expansions in the C9orf72 gene are translated into proteins.
  • These translated proteins form neuronal aggregates, offering a molecular mechanism for C9orf72-associated neurodegenerative diseases.

Key Insights:

  • Noncoding repeats in C9orf72 can be translated into proteins.
  • These translated proteins aggregate in neurons, linking genetic mutations to disease pathology.
  • This finding challenges the understanding of noncoding repeat functions in neurodegeneration.

Outlook:

  • Further research into the toxic mechanisms of these translated proteins is warranted.
  • This discovery opens new avenues for therapeutic strategies targeting C9orf72-related FTD and ALS.
  • Understanding repeat translation may shed light on other repeat expansion disorders.