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While their rapid expansion can diversify gene expression during evolution, exceeding a certain threshold can lead to diseases such as Huntington\u2019s disease (HD), a neurodegenerative condition, triggered by &amp;gt;36 C\u2013A\u2013G repeats in exon 1 of the Huntingtin gene. Notably, the discovery of somatic instability (SI) of the tract allows these mutations, inherited from an affected parent, to further expand throughout the patient\u2019s lifetime, resulting in a mosaic brain with specific\u00a0neurons exhibiting variable and often extreme CAG lengths, ultimately leading to their death. Genome-wide association studies\u00a0have identified genetic variants\u2014both cis and trans, including mismatch repair\u00a0modifiers\u2014that modulate SI, as shown in blood cells, and influence HD\u2019s age of onset. This review will explore the evidence for SI in HD and its role in disease pathogenesis, as well as the therapeutic implications of these findings. We conclude by emphasizing the urgent need for reliable methods to quantify SI for diagnostic and prognostic purposes.<\/jats:p>","DOI":"10.1093\/nar\/gkae1204","type":"journal-article","created":{"date-parts":[[2024,12,14]],"date-time":"2024-12-14T22:04:56Z","timestamp":1734213896000},"source":"Crossref","is-referenced-by-count":17,"title":["When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington\u2019s disease"],"prefix":"10.1093","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0755-4917","authenticated-orcid":false,"given":"Elena","family":"Cattaneo","sequence":"first","affiliation":[{"name":"Department of Biosciences, University of Milan , street Giovanni Celoria, 26, 20133,\u00a0Milan ,","place":["Italy"]},{"name":"INGM, Fondazione Istituto Nazionale Genetica Molecolare \u2018Romeo ed Enrica Invernizzi\u2019 , street Francesco Sforza, 35, 20122,\u00a0Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6020-1287","authenticated-orcid":false,"given":"Davide","family":"Scalzo","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan , street Giovanni Celoria, 26, 20133,\u00a0Milan ,","place":["Italy"]},{"name":"INGM, Fondazione Istituto Nazionale Genetica Molecolare \u2018Romeo ed Enrica Invernizzi\u2019 , street Francesco Sforza, 35, 20122,\u00a0Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4812-3809","authenticated-orcid":false,"given":"Martina","family":"Zobel","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan , street Giovanni Celoria, 26, 20133,\u00a0Milan ,","place":["Italy"]},{"name":"INGM, Fondazione Istituto Nazionale Genetica Molecolare \u2018Romeo ed Enrica Invernizzi\u2019 , street Francesco Sforza, 35, 20122,\u00a0Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7309-7232","authenticated-orcid":false,"given":"Raffaele","family":"Iennaco","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan , street Giovanni Celoria, 26, 20133,\u00a0Milan ,","place":["Italy"]},{"name":"INGM, Fondazione Istituto Nazionale Genetica Molecolare \u2018Romeo ed Enrica Invernizzi\u2019 , street Francesco Sforza, 35, 20122,\u00a0Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0397-1609","authenticated-orcid":false,"given":"Camilla","family":"Maffezzini","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan , street Giovanni Celoria, 26, 20133,\u00a0Milan ,","place":["Italy"]},{"name":"INGM, Fondazione Istituto Nazionale Genetica Molecolare \u2018Romeo ed Enrica Invernizzi\u2019 , street Francesco Sforza, 35, 20122,\u00a0Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9793-9644","authenticated-orcid":false,"given":"Dario","family":"Besusso","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan , street Giovanni Celoria, 26, 20133,\u00a0Milan ,","place":["Italy"]},{"name":"INGM, Fondazione Istituto Nazionale Genetica Molecolare \u2018Romeo ed Enrica Invernizzi\u2019 , street Francesco Sforza, 35, 20122,\u00a0Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1192-0684","authenticated-orcid":false,"given":"Simone","family":"Maestri","sequence":"additional","affiliation":[{"name":"Department of Biosciences, University of Milan , street Giovanni Celoria, 26, 20133,\u00a0Milan ,","place":["Italy"]},{"name":"INGM, Fondazione Istituto Nazionale Genetica Molecolare \u2018Romeo ed Enrica Invernizzi\u2019 , street Francesco Sforza, 35, 20122,\u00a0Milan ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,12,14]]},"reference":[{"key":"2025011110010181800_B1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/ng.3461","article-title":"Abundant contribution of short tandem repeats to gene expression variation in humans","volume":"48","author":"Gymrek","year":"2016","journal-title":"Nat. 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