DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

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• 作者：Conceiç ; ã ; o Bettencourt ; Davina Hensman-Moss ; Michael Flower ; Sarah Wiethoff ; Alexis Brice ; Cyril Goizet ; Giovanni Stevanin ; Georgios Koutsis ; Georgia Karadima ; Marios Panas ; Petra Yescas-G&#243 ; mez ; Lizbeth Esmeralda Garcí ; a-Velá ; zquez ; Marí ; a Elisa Alonso-Vilatela ; Manuela Lima ; Mafalda Raposo ; Bryan Traynor ; Mary Sweeney ; Nicholas Wood ; Paola Giunti ; The SPATAX Network ; Alexandra Durr ; Peter Holmans ; Henry Houlden ; Sarah J. Tabrizi and Lesley Jones
• 刊名：Annals of Neurology
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：79
• 期：6
• 页码：983-990
• 全文大小：280K
• ISSN：1531-8249

文摘

The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative diseases. They are caused by expanded CAG tracts, encoding glutamine, in different genes. Longer CAG repeat tracts are associated with earlier ages at onset, but this does not account for all of the difference, and the existence of additional genetic modifying factors has been suggested in these diseases. A recent genome-wide association study (GWAS) in HD found association between age at onset and genetic variants in DNA repair pathways, and we therefore tested whether the modifying effects of variants in DNA repair genes have wider effects in the polyglutamine diseases.