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Suppression of Somatic Expansion As a Novel Therapeutic Approach for Huntington Disease and Other Repeat Expansion Disorders

Antonijevic, Irina A; Bettencourt, Brian R; Bialek, Peter; Ge, Pei; Ding, Shi-Ying; Lai, George; Hedde, Joseph; ... Tabrizi, Sarah J; + view all (2022) Suppression of Somatic Expansion As a Novel Therapeutic Approach for Huntington Disease and Other Repeat Expansion Disorders. GEN Biotechnology. , 1 (2) pp. 163-175. 10.1089/genbio.2021.0012. Green open access

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Abstract

Huntington disease (HD) is one of a growing number of rare genetic diseases characterized by the inheritance of an increased number of short tandem repeats within the affected gene. Many of these repeat expansion disorders (REDs) affect the brain. Although inheritance of the mutant allele is a necessary first step for disease manifestation, a second step of further expansion of the inherited expanded repeats, particularly in neurons in the brain, also appears to play a critical role toward disease manifestation. This dynamic process, called somatic expansion, is modulated by genes involved in the repair of DNA that operate upstream of the specific gene associated with each individual disease. As somatic expansion has been described in multiple REDs, genes associated with regulating somatic expansion are attractive therapeutic targets, since multiple REDs could potentially be treated with the same drug.

Type: Article
Title: Suppression of Somatic Expansion As a Novel Therapeutic Approach for Huntington Disease and Other Repeat Expansion Disorders
Open access status: An open access version is available from UCL Discovery
DOI: 10.1089/genbio.2021.0012
Publisher version: http://dx.doi.org/10.1089/genbio.2021.0012
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10187212
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