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

2016; Wiley; Volume: 79; Issue: 6 Linguagem: Inglês

10.1002/ana.24656

1531-8249

Conceição Bettencourt, Davina J. Hensman Moss, Michael Flower, Sarah Wiethoff, Alexis Brice, Cyril Goizet, Giovanni Stévanin, Georgios Koutsis, Georgia Karadima, Μάριος Πάνας, Petra Yescas, Lizbeth García‐Velázquez, María Elisa Alonso‐Vilatela, Manuela Lima, Mafalda Raposo, Bryan J. Traynor, Mary G. Sweeney, Nicholas Wood, Paola Giunti, Alexandra Dürr, Peter Holmans, Henry Houlden, Sarah J. Tabrizi, Lesley Jones,

Mitochondrial Function and Pathology

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.