Huntington Disease As a Neurodevelopmental Disorder and Early Signs of the Disease in Stem Cells

Overview

Journal Mol Neurobiol

Specialties Molecular Biology
Neurology

Date 2017 May 13

PMID 28497201

Citations 51

Authors

Kalina Wiatr

Wojciech J Szlachcic

Marta Trzeciak

Marek Figlerowicz

Maciej Figiel

Affiliations

Soon will be listed here.

Abstract

Huntington disease (HD) is a dominantly inherited disorder caused by a CAG expansion mutation in the huntingtin (HTT) gene, which results in the HTT protein that contains an expanded polyglutamine tract. The adult form of HD exhibits a late onset of the fully symptomatic phase. However, there is also a long presymptomatic phase, which has been increasingly investigated and recognized as important for the disease development. Moreover, the juvenile form of HD, evoked by a higher number of CAG repeats, resembles a neurodevelopmental disorder and has recently been the focus of additional interest. Multiple lines of data, such as the developmental necessity of HTT, its role in the cell cycle and neurogenesis, and findings from pluripotent stem cells, suggest the existence of a neurodevelopmental component in HD pathogenesis. Therefore, we discuss the early molecular pathogenesis of HD in pluripotent and neural stem cells, with respect to the neurodevelopmental aspects of HD.

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