The instability of the Huntington's disease CAG repeat mutation

Wheeler, Vanessa C., Stone, Joseph C., Massey, Thomas H. ORCID: https://orcid.org/0000-0002-9804-2131 and Mouro Pinto, Ricardo 2024. The instability of the Huntington's disease CAG repeat mutation. Yang, X. William, Thompson, Leslie M. and Heiman, Myriam, eds. Huntington's disease. Pathogenic mechanisms and implications for therapeutics, London, UK: Academic Press, pp. 85-115. (10.1016/B978-0-323-95672-7.00003-0)

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Abstract

The Cytosine–Adenine–Guanine (CAG) repeat mutation that causes Huntington's disease (HD) is characterized by its instability, or the tendency for the number of repeat units to increase or decrease. Such mutational properties have a bearing on many aspects of this disease, including the propensity to generate new mutations and relationships between genotype (repeat length) and clinical phenotypes. In this chapter, we describe the instability of the HD CAG repeat mutation upon transmission from one generation to the next and throughout a patient's life in somatic cells. We then discuss how insights from mouse models have helped us to understand factors that underlie repeat instability, and recent genome-wide association studies (GWAS) in HD patients that have highlighted a pivotal role for somatic repeat instability in driving disease. Finally, we address key outstanding questions to be addressed in future work that will deepen our understanding of the underlying biology of repeat instability and inform therapeutic strategies.

Item Type:	Book Section
Date Type:	Publication
Status:	Published
Schools:	Medicine Neuroscience and Mental Health Research Institute (NMHRI) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Academic Press
ISBN:	978-0-323-95672-7
Last Modified:	25 Apr 2024 13:02
URI:	https://orca.cardiff.ac.uk/id/eprint/166313

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