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Comparison of Huntington’s disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus

Comparison of Huntington’s disease CAG Repeat Length Stability in Human Motor Cortex and... Huntington’s disease is caused by expansion of the CAG repeat in Huntingtin. This repeat has shown tissue-specific instability in mouse models and in a small number of post-mortem human samples. We used small-pool PCR to generate a modified instability index to quantify CAG instability within two brain regions from six human samples where cell loss has been associated with motor and mood symptoms: the motor cortex and cingulate gyrus. The expanded allele demonstrated instability in both regions, with minimal instability in the unexpanded allele. Region-specific differences were not observed, suggesting symptomatology may not be determined by repeat length instability. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Huntington's Disease IOS Press

Comparison of Huntington’s disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus

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Publisher
IOS Press
Copyright
Copyright © 2016 IOS Press and the authors. All rights reserved
ISSN
1879-6397
eISSN
1879-6400
DOI
10.3233/JHD-160203
pmid
27716680
Publisher site
See Article on Publisher Site

Abstract

Huntington’s disease is caused by expansion of the CAG repeat in Huntingtin. This repeat has shown tissue-specific instability in mouse models and in a small number of post-mortem human samples. We used small-pool PCR to generate a modified instability index to quantify CAG instability within two brain regions from six human samples where cell loss has been associated with motor and mood symptoms: the motor cortex and cingulate gyrus. The expanded allele demonstrated instability in both regions, with minimal instability in the unexpanded allele. Region-specific differences were not observed, suggesting symptomatology may not be determined by repeat length instability.

Journal

Journal of Huntington's DiseaseIOS Press

Published: Jan 1, 2016

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