Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study-Reference-Cited by-同舟云学术

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

Published:2024-08-20 Issue:s1 Volume:100 Page:S187-S196
ISSN:1387-2877
Container-title:Journal of Alzheimer's Disease
language:
Short-container-title:JAD

Author:

Serpente Maria¹, ,Fenoglio Chiara¹²,Arcaro Marina¹,Carandini Tiziana¹,Sacchi Luca¹²,Pintus Manuela¹²,Rotondo Emanuela¹,Borracci Vittoria¹,Ghezzi Laura¹²,Bouzigues Arabella³,Russell Lucy L.³,Foster Phoebe H.³,Ferry-Bolder Eve³,van Swieten John C.⁴,Jiskoot Lize C.⁴,Seelaar Harro⁴,Sánchez Valle Raquel⁵,Laforce Robert⁶,Graff Caroline⁷⁸,Vandenberghe Rik⁹¹⁰¹¹,de Mendonça Alexandre¹²,Tiraboschi Pietro¹³,Santana Isabel¹⁴¹⁵,Gerhard Alexander¹⁶¹⁷¹⁸,Levin Johannes¹⁹²⁰²¹,Sorbi Sandro²²²³,Otto Markus²⁴,Pasquier Florence²⁵²⁶²⁷,Ducharme Simon²⁸²⁹,Butler Chris R.³⁰³¹,Le Ber Isabelle³²³³³⁴,Finger Elizabeth³⁵,Tartaglia Maria Carmela³⁶,Masellis Mario³⁷,Rowe James B.³⁸,Synofzik Matthis³⁹⁴⁰,Moreno Fermin⁴¹⁴²⁴³,Borroni Barbara⁴⁴,Rohrer Jonathan D.³,Arighi Andrea¹,Galimberti Daniela¹²

Affiliation:

1. Fondazione Ca’ Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy

2. Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy

3. Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK

4. Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands

5. 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

6. Département des Sciences Neurologiques, Clinique Interdisciplinaire de Mémoire, CHU de Québec, and Faculté de Médecine, Université Laval, QC, Canada

7. Department of Neurobiology, Care Sciences and Society; Center for Alzheimer Research, Division of Neurogeriatrics, Bioclinicum, Karolinska Institutet, Solna, Sweden

8. Unit for Hereditary Dementias, Theme Inflammation and Aging, Karolinska University Hospital, Solna, Sweden

9. Department of Neurosciences, Laboratory for Cognitive Neurology, KU Leuven, Leuven, Belgium

10. Neurology Service, University Hospitals Leuven, Leuven, Belgium

11. Leuven Brain Institute, KU Leuven, Leuven, Belgium

12. Faculty of Medicine, University of Lisbon, Lisbon, Portugal

13. Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

14. University Hospital of Coimbra (HUC), Neurology Service, Faculty of Medicine, University of Coimbra, Coimbra, Portugal

15. Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal

16. Division of Psychology Communication and Human Neuroscience, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK

17. Department of Nuclear Medicine, Center for Translational Neuro- and Behavioral Sciences, University Medicine Essen, Essen, Germany

18. Department of Geriatric Medicine, Klinikum Hochsauerland, Arnsberg, Germany

19. Department of Neurology, Ludwig-Maximilians Universität München, Munich, Germany

20. German Center for Neurodegenerative Diseases (DZNE), Munich, Germany

21. Munich Cluster of Systems Neurology (SyNergy), Munich, Germany

22. Department of Neurofarba, University of Florence, Italy

23. IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy

24. Department of Neurology, University of Ulm, Germany

25. University of Lille, Lille, France

26. Inserm 1172, Lille, France

27. CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, Lille, France

28. Department of Psychiatry, Douglas Mental Health University Institute, McGill University, Montreal, QC, Canada

29. McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, QC, Canada

30. Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK

31. Department of Brain Sciences, Imperial College London, London, UK

32. Sorbonne Université, Paris Brain Institute – Institut du Cerveau – ICM, Inserm U1127, CNRS UMR 7225, AP-HP – Hôpital Pitié-Salpêtrière, Paris, France

33. Département de Neurologie, Centre de Référence Des Démences Rares Ou Précoces, IM2A, AP-HP – Hôpital Pitié-Salpêtrière, Paris, France

34. Département de Neurologie, AP-HP – Hôpital Pitié-Salpêtrière, Paris, France

35. Department of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada

36. Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada

37. Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada

38. Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, University of Cambridge, Cambridge, UK

39. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany

40. German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany

41. Cognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain

42. Biogipuzkoa Health Research Institute, Neurosciences Area, Group of Neurodegenerative Diseases, San Sebastian, Spain

43. Center for Biomedical Research in Neurodegenerative Disease (CIBERNED), Carlos III Health Institute, Madrid, Spain

44. Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy

Abstract

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.

Publisher

IOS Press

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