{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T12:06:07Z","timestamp":1775909167908,"version":"3.50.1"},"reference-count":35,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T00:00:00Z","timestamp":1669334400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian ministry of Health","award":["RF-2018-12365333"],"award-info":[{"award-number":["RF-2018-12365333"]}]},{"name":"Italian ministry of Health","award":["GR-2019-12369100"],"award-info":[{"award-number":["GR-2019-12369100"]}]},{"name":"Dino Ferrari Center","award":["RF-2018-12365333"],"award-info":[{"award-number":["RF-2018-12365333"]}]},{"name":"Dino Ferrari Center","award":["GR-2019-12369100"],"award-info":[{"award-number":["GR-2019-12369100"]}]},{"name":"Fondazione Gigi &amp; Pupa Ferrari Onlus","award":["RF-2018-12365333"],"award-info":[{"award-number":["RF-2018-12365333"]}]},{"name":"Fondazione Gigi &amp; Pupa Ferrari Onlus","award":["GR-2019-12369100"],"award-info":[{"award-number":["GR-2019-12369100"]}]},{"name":"Italian Ministry of University and Research","award":["RF-2018-12365333"],"award-info":[{"award-number":["RF-2018-12365333"]}]},{"name":"Italian Ministry of University and Research","award":["GR-2019-12369100"],"award-info":[{"award-number":["GR-2019-12369100"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Frontotemporal Dementia (FTD) represents a highly heritable neurodegenerative disorder. Most of the heritability is caused by autosomal dominant mutations in the Microtubule-Associated Protein Tau (MAPT), Progranulin (GRN), and the pathologic exanucleotide expansion of C9ORF72 genes. At the pathological level, either the tau or the TAR DNA-binding protein (TDP-43) account for almost all cases of FTD. Pathogenic mechanisms are just arising, and the emerging role of non-coding RNAs (ncRNAs), such as microRNAs (miRNA) and long non-coding RNAs (lncRNAs), have become increasingly evident. Using specific arrays, an exploratory analysis testing the expression levels of 84 miRNAs and 84 lncRNAs has been performed in a population consisting of 24 genetic FTD patients (eight GRN, eight C9ORF72, and eight MAPT mutation carriers), eight sporadic FTD patients, and eight healthy controls. The results showed a generalized ncRNA downregulation in patients carrying GRN and C9ORF72 when compared with the controls, with statistically significant results for the following miRNAs: miR-155-5p (Fold Change FC: 0.45, p = 0.037 FDR = 0.52), miR-15a-5p (FC: 0.13, p = 0.027, FDR = 1), miR-222-3p (FC: 0.13, p = 0.027, FDR = 0.778), miR-140-3p (FC: 0.096, p = 0.034, FRD = 0.593), miR-106b-5p (FC: 0.13, p = 0.02, FDR = 0.584) and an upregulation solely for miR-124-3p (FC: 2.1, p = 0.01, FDR = 0.893). Conversely, MAPT mutation carriers showed a generalized robust upregulation in several ncRNAs, specifically for miR-222-3p (FC: 22.3, p = 7 \u00d7 10\u22126, FDR = 0.117), miR-15a-5p (FC: 30.2, p = 0.008, FDR = 0.145), miR-27a-3p (FC: 27.8, p = 6 \u00d7 10\u22126, FDR = 0.0005), miR-223-3p (FC: 18.9, p = 0.005, FDR = 0.117), and miR-16-5p (FC: 10.9, p = 5.26 \u00d7 10\u22125, FDR = 0.001). These results suggest a clear, distinctive pattern of dysregulation among ncRNAs and specific enrichment gene pathways between mutations associated with the TDP-43 and tau pathologies. Nevertheless, these preliminary results need to be confirmed in a larger independent cohort.<\/jats:p>","DOI":"10.3390\/ijms232314723","type":"journal-article","created":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T03:34:24Z","timestamp":1669347264000},"page":"14723","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Circulating Non-Coding RNA Levels Are Altered in Autosomal Dominant Frontotemporal Dementia"],"prefix":"10.3390","volume":"23","author":[{"given":"Chiara","family":"Fenoglio","sequence":"first","affiliation":[{"name":"Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Serpente","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0356-1658","authenticated-orcid":false,"given":"Caterina","family":"Visconte","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Surgical and Dental Sciences, Dino Ferrari Center, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3821-0682","authenticated-orcid":false,"given":"Marina","family":"Arcaro","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0530-3989","authenticated-orcid":false,"given":"Federica","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Surgical and Dental Sciences, Dino Ferrari Center, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8625-6506","authenticated-orcid":false,"given":"Marianna","family":"D\u2019Anca","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2865-3970","authenticated-orcid":false,"given":"Andrea","family":"Arighi","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Rotondo","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Vimercati","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6680-2725","authenticated-orcid":false,"given":"Giacomina","family":"Rossi","sequence":"additional","affiliation":[{"name":"Unit of Neurology V\u2014Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elio","family":"Scarpini","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"},{"name":"Department of Biomedical, Surgical and Dental Sciences, Dino Ferrari Center, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9284-5953","authenticated-orcid":false,"given":"Daniela","family":"Galimberti","sequence":"additional","affiliation":[{"name":"Fondazione, IRCCS Ca\u2019 Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy"},{"name":"Department of Biomedical, Surgical and Dental Sciences, Dino Ferrari Center, University of Milan, 20122 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/S1474-4422(18)30126-1","article-title":"Potential Genetic Modifiers of Disease Risk and Age at Onset in Patients with Frontotemporal Lobar Degeneration and GRN Mutations: A Genome-Wide Association Study","volume":"17","author":"Pottier","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1007\/s11910-007-0067-6","article-title":"The Genetics of Frontotemporal Lobar Degeneration","volume":"7","author":"Rademakers","year":"2007","journal-title":"Curr. 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