Algorithmic information theory may explain the pathogenic number of DNA repeats in myotonic dystrophy type 1 (and in similar diseases)

  • Authors:
  • Misha Koshelev;Luc Longpré

  • Affiliations:
  • Baylor College of Medicine, Houston, TX, USA;University of Texas at El Paso, El Paso, TX, USA

  • Venue:
  • ACM SIGACT News
  • Year:
  • 2010

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Abstract

Myotonic Dystrophy Type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by an abnormal number of repeats of the trinucleotide sequence CTG outside of the protein-coding part of DNA -- more than fifty repeats can cause disease. Several other diseases are caused by similar repeats in non-coding regions; in most of these diseases, up to approximately fifty repeats is normal, while pathogenic cases usually have 50 repetitions. The fact that this level of approximately fifty repeats can be seen in many diseases, with different repeating sequences, indicates that there may be a fundamental explanation for this threshold. In this paper, we conjecture that such an explanation may come from Algorithmic Information Theory. Crudely speaking, this threshold can be viewed as a measure of the redundancy in healthy DNA; this indirect estimate of the measure of redundancy is in good accordance with a more direct estimate { based on the fact that approximately 1=50 of DNA is directly functionally useful (e.g., protein-coding).