Simple mathematical model of pathologic microsatellite expansions: when self-reparation does not work

DOI10.1016/J.JTBI.2006.03.008MaRDI QIDQ2201886zbMATH OpenOpenAlexWikidataFDO

Authors Boris Veytsman, Leila Akhmadeyeva

Publication date 17 September 2020

Published in Journal of Theoretical Biology (Search for Journal in Brave)

Full work available at URL https://arxiv.org/abs/0707.4318

zbMATH Keywords

mathematical modelmyotonic dystrophyfragile XHuntington diseasemicrosatellite expansion

Mathematics Subject Classification ID

Pathology, pathophysiology (92C32)

Abstract: We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite expansions are always self-repairing. If these probabilities are different, self-reparation does not work. Mosaicism, anticipation and reverse mutation cases are discussed in the framework of the model. We explain these phenomena and provide some theoretical evidence for their properties, for example the rarity of reverse mutations.

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