Microsatellite Repeat Instability and Neurological Disease

Overview

Journal Bioessays

Publisher Wiley

Specialties Biology
Cell Biology
Molecular Biology

Date 2009 Jan 21

PMID 19154005

Citations 73

Authors

Judith R Brouwer

Rob Willemsen

Ben A Oostra

Affiliations

Soon will be listed here.

Abstract

Over 20 unstable microsatellite repeats have been identified as the cause of neurological disease in humans. The repeat nucleotide sequences, their location within the genes, the ranges of normal and disease-causing repeat length and the clinical outcomes differ. Unstable repeats can be located in the coding or the non-coding region of a gene. Different pathogenic mechanisms that are hypothesised to underlie the diseases are discussed. Evidence is given both from studies in simple model systems and from studies on human material and in animal models. Since somatic instability might affect the clinical outcome, this is briefly touched on. Available data and theories on the timing and mechanisms of the repeat instability itself are discussed, along with factors that have been observed to affect instability. Finally, the question of why the often harmful unstable repeats have been maintained throughout evolution is addressed.

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