Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study.

Autor:	Serpente M; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy., Fenoglio C; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy., Arcaro M; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy., Carandini T; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy., Sacchi L; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy., Pintus M; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy., Rotondo E; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy., Borracci V; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy., Ghezzi L; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy., Bouzigues A; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK., Russell LL; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK., Foster PH; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK., Ferry-Bolder E; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK., van Swieten JC; Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands., Jiskoot LC; Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands., Seelaar H; Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands., Sánchez Valle R; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Fundació Clínic per a la Recerca Biomèdica, Universitat de Barcelona, Barcelona, Spain., Laforce R; Département des Sciences Neurologiques, Clinique Interdisciplinaire de Mémoire, CHU de Québec, and Faculté de Médecine, Université Laval, QC, Canada., Graff C; Department of Neurobiology, Care Sciences and Society; Center for Alzheimer Research, Division of Neurogeriatrics, Bioclinicum, Karolinska Institutet, Solna, Sweden.; Unit for Hereditary Dementias, Theme Inflammation and Aging, Karolinska University Hospital, Solna, Sweden., Vandenberghe R; Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium.; Neurology Service, University Hospitals Leuven, Leuven, Belgium.; Leuven Brain Institute, KU Leuven, Leuven, Belgium., de Mendonça A; Faculty of Medicine, University of Lisbon, Lisbon, Portugal., Tiraboschi P; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Santana I; University Hospital of Coimbra (HUC), Neurology Service, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Gerhard A; Division of Psychology Communication and Human Neuroscience, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.; Department of Nuclear Medicine, Center for Translational Neuro- and Behavioral Sciences, University Medicine Essen, Essen, Germany.; Department of Geriatric Medicine, Klinikum Hochsauerland, Arnsberg, Germany., Levin J; Department of Neurology, Ludwig-Maximilians Universität München, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany., Sorbi S; Department of Neurofarba, University of Florence, Italy.; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy., Otto M; Department of Neurology, University of Ulm, Germany., Pasquier F; University of Lille, Lille, France.; Inserm 1172, Lille, France.; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, Lille, France., Ducharme S; Department of Psychiatry, Douglas Mental Health University Institute, McGill University, Montreal, QC, Canada.; McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, QC, Canada., Butler CR; Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.; Department of Brain Sciences, Imperial College London, London, UK., Le Ber I; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.; Département de Neurologie, Centre de Référence Des Démences Rares Ou Précoces, IM2A, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.; Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France., Finger E; Department of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada., Tartaglia MC; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada., Masellis M; Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada., Rowe JB; Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, University of Cambridge, Cambridge, UK., Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany., Moreno F; Cognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain.; Biogipuzkoa Health Research Institute, Neurosciences Area, Group of Neurodegenerative Diseases, San Sebastian, Spain.; Center for Biomedical Research in Neurodegenerative Disease (CIBERNED), Carlos III Health Institute, Madrid, Spain., Borroni B; Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy., Rohrer JD; Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK., Arighi A; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy., Galimberti D; Fondazione Ca' Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy.; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.
Jazyk:	angličtina
Zdroj:	Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2024; Vol. 100 (s1), pp. S187-S196.
DOI:	10.3233/JAD-240557
Abstrakt:	Background: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in genetic FTD involving Chromosome 9 Open Reading Frame (C9ORF72), Microtubule Associated Protein Tau (MAPT), and Progranulin (GRN) genes are not well understood. Objective: This study aimed to profile the expression levels of lncRNAs in peripheral blood mononuclear cells collected within the GENetic Frontotemporal dementia Initiative (GENFI). Methods: Fifty-three lncRNAs were analyzed with the OpenArray Custom panel, in 131 patients with mutations in C9ORF72, MAPT, and GRN, including 68 symptomatic mutation carriers (SMC) and 63 presymptomatic mutation carriers (PMC), compared with 40 non-carrier controls (NC). Results: Thirty-eight lncRNAs were detectable; the relative expression of NEAT1 and NORAD was significantly higher in C9ORF72 SMC as compared with NC. GAS5 expression was instead significantly lower in the GRN group versus NC. MAPT carriers showed no significant deregulations. No significant differences were observed in PMC. Disease duration did not correlate with lncRNA expression. Conclusions: NEAT1 and NORAD are upregulated in C9ORF72 SMC and GAS5 levels are downregulated in GRN SMC, underlining lncRNAs' relevance in FTD and their potential for biomarker development. Further validation and mechanistic studies are crucial for clinical implications.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu