{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T16:58:41Z","timestamp":1767891521322,"version":"3.49.0"},"reference-count":66,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T00:00:00Z","timestamp":1738886400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["RC-2787053"],"award-info":[{"award-number":["RC-2787053"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: Huntington\u2019s disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the CAG nucleotide repeat in the first exon of the huntingtin (HTT) gene. The disease typically manifests between the second and third decades of life and progresses gradually. The pathogenesis of HD involves the dysregulation of gene expression, influenced by various molecular processes ranging from transcription to protein stability. Methods: To investigate potential variations in gene expression associated with HD, a transcriptome study was conducted using peripheral blood mononuclear cell samples from 15 HD patients and 15 controls, all of Sicilian origin. Results: The analysis identified 7179 statistically significant differentially expressed genes between the two groups. Gene Set Enrichment Analysis (GSEA) and Gene Ontology (GO) terms were applied to identify the pathways affected by these differentially expressed mRNAs. The GSEA results highlighted significant associations between HD and GO pathways related to ribosomal functions and structure. These pathways were predominantly characterized by negative expression, with a substantial number of genes showing dysregulation. This suggests that the molecular processes leading to protein translation via ribosomes may be impaired in HD. Furthermore, dysregulation was observed in genes and non-coding RNAs involved in regulatory roles across various transcriptional processes. Conclusions: These findings support the hypothesis that the entire process, from transcription to translation, is disrupted in HD patients carrying the CAG repeat expansion in the first exon of the HTT gene.<\/jats:p>","DOI":"10.3390\/diagnostics15040409","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T11:03:51Z","timestamp":1738926231000},"page":"409","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Transcriptome Study in Sicilian Patients with Huntington\u2019s Disease"],"prefix":"10.3390","volume":"15","author":[{"given":"Michele","family":"Salemi","sequence":"first","affiliation":[{"name":"Oasi Research Institute-IRCCS, 94018 Troina, EN, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9805-1655","authenticated-orcid":false,"given":"Vincenzo","family":"Di Stefano","sequence":"additional","affiliation":[{"name":"Department of Biomedicine, Neuroscience and Advanced Diagnostics (Bi.N.D.), University of Palermo, 90127 Palermo, PA, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7185-1176","authenticated-orcid":false,"given":"Francesca A.","family":"Schillaci","sequence":"additional","affiliation":[{"name":"Oasi Research Institute-IRCCS, 94018 Troina, EN, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Marchese","sequence":"additional","affiliation":[{"name":"Genomix4Life S.r.l., 84081 Baronissi, SA, Italy"},{"name":"Genome Research Center for Health-CRGS, 84081 Baronissi, SA, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6240-1975","authenticated-orcid":false,"given":"Maria Grazia","family":"Salluzzo","sequence":"additional","affiliation":[{"name":"Oasi Research Institute-IRCCS, 94018 Troina, EN, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9784-7010","authenticated-orcid":false,"given":"Angela","family":"Cordella","sequence":"additional","affiliation":[{"name":"Genomix4Life S.r.l., 84081 Baronissi, SA, Italy"},{"name":"Genome Research Center for Health-CRGS, 84081 Baronissi, SA, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilenia","family":"De Leo","sequence":"additional","affiliation":[{"name":"Genomix4Life S.r.l., 84081 Baronissi, SA, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Concetta Simona","family":"Perrotta","sequence":"additional","affiliation":[{"name":"Vittorio Emanuele Gela Hospital, Asp 2 of Caltanissetta, 93012 Gela, CL, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Nibali","sequence":"additional","affiliation":[{"name":"U.O.S.D. 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