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Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia

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العنوان: Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
المؤلفون: Sogorb-Esteve, A, Nilsson, J, Swift, IJ, Heller, C, Bocchetta, M, Russell, LL, Peakman, G, Convery, RS, van Swieten, JC, Seelaar, H, Borroni, B, Bertrand, A, Funkiewiez, A, Laforce, R, Loosli, S, Rinaldi, D, Levin, J, Saracino, D, Synofzik, M, Colliot, O, Schönecker, S, Cash, D, Hoegen, T, Moreno, F, Lombardi, J, Anderl-Straub, S, Shafei, R, Rollin, A, Kuchcinski, G, Otto, M, Almeida, MR, Bertoux, M, Thomas, DL, Lebouvier, T, Deramecourt, V, Timberlake, C, Tábuas-Pereira, M, Sorbi, S, Afonso, S, Graff, C, Rossi, G, Masellis, M, Tartaglia, MC, Todd, E, Rowe, JB, Vandenberghe, R, Finger, E, Tagliavini, F, Santana, I, Cope, T, Le Ber, I, Butler, CR, Giaccone, G, Ducharme, S, Benussi, A, Gerhard, A, Pasquier, F, Gobom, J, Rittman, T, Brinkmalm, A, Blennow, K, Papma, JM, Zetterberg, H, Rohrer, JD, Di Fede, G, Benotmane, H, Nelson, A, Bouzigues, A, Greaves, CV, Giannini, L, Nicholas, J, Caroppo, P, Samra, K, Premi, E, Thompson, P, Gasparotti, R, Archetti, S, Gazzina, S, Cantoni, V, Bargalló, N, Arighi, A, Fenoglio, C, van Minkelen, R, Tiraboschi, P, Scarpini, E, Langheinrich, T, Fumagalli, G, Borracci, V, Borrego-Ecija, S, Prioni, S, Pijnenburg, Y, Redaelli, V, Tang-Wai, D, Alves, P, Rogaeva, E, Castelo-Branco, M, Lladó, A, Freedman, M, Keren, R, Black, S, Mitchell, S, Shoesmith, C, de Mendonça, A, Nacmias, B, Bartha, R, Bender, B, Rademakers, R, Maruta, C, Poos, J, Ferrari, C, Polito, C, Verdelho, A, Lombardi, G, Bessi, V, Sayah, S, Veldsman, M, Andersson, C, Wilke, C, Antonell, A, Thonberg, H, Öijerstedt, L, Jelic, V, Prix, C, Olives, J, Graf, L, Balasa, M, Ferreira, CB, Santiago, B, Miltenberger, G, do Couto, FS, Gabilondo, A, Gorostidi, A, Galimberti, D, Villanua, J, Cañada, M, Wlasich, E, Vogels, A, Tainta, M, Duro, D, Zulaica, M, Barandiaran, M, Sanchez-Valle, R, Vandenbulcke, M, Wagemann, O, Van Damme, P, Bruffaerts, R, Danek, A, Poesen, K, Rosa-Neto, P, Leitão, MJ, Gauthier, S, Camuzat, A, Brice, A
بيانات النشر: BMC (Springer Nature)
سنة النشر: 2022
المجموعة: Brunel University London: Brunel University Research Archive (BURA)
مصطلحات موضوعية: frontotemporal dementia, synaptic dysfunction, biomarkers
الوصف: Availability of data and materials: The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request. ; Copyright © The Author(s) 2022. Background: Approximately a third of frontotemporal dementia (FTD) is genetic with mutations in three genes accounting for most of the inheritance: C9orf72, GRN, and MAPT. Impaired synaptic health is a common mechanism in all three genetic variants, so developing fluid biomarkers of this process could be useful as a readout of cellular dysfunction within therapeutic trials. Methods: A total of 193 cerebrospinal fluid (CSF) samples from the GENetic FTD Initiative including 77 presymptomatic (31 C9orf72, 23 GRN, 23 MAPT) and 55 symptomatic (26 C9orf72, 17 GRN, 12 MAPT) mutation carriers as well as 61 mutation-negative controls were measured using a microflow LC PRM-MS set-up targeting 15 synaptic proteins: AP-2 complex subunit beta, complexin-2, beta-synuclein, gamma-synuclein, 14–3-3 proteins (eta, epsilon, zeta/delta), neurogranin, Rab GDP dissociation inhibitor alpha (Rab GDI alpha), syntaxin-1B, syntaxin-7, phosphatidylethanolamine-binding protein 1 (PEBP-1), neuronal pentraxin receptor (NPTXR), neuronal pentraxin 1 (NPTX1), and neuronal pentraxin 2 (NPTX2). Mutation carrier groups were compared to each other and to controls using a bootstrapped linear regression model, adjusting for age and sex. Results: CSF levels of eight proteins were increased only in symptomatic MAPT mutation carriers (compared with controls) and not in symptomatic C9orf72 or GRN mutation carriers: beta-synuclein, gamma-synuclein, 14–3-3-eta, neurogranin, Rab GDI alpha, syntaxin-1B, syntaxin-7, and PEBP-1, with three other proteins increased in MAPT mutation carriers compared with the other genetic groups (AP-2 complex subunit beta, complexin-2, and 14–3-3 zeta/delta). In contrast, CSF NPTX1 and NPTX2 levels were affected in all three genetic groups (decreased compared with controls), with NPTXR concentrations being affected in C9orf72 and GRN ...
نوع الوثيقة: article in journal/newspaper
وصف الملف: 1 - 12; Electronic
اللغة: English
تدمد: 1758-9193
العلاقة: Alzheimer's Research & Therapy; 118; Sogorb-Esteve, A. et al. (2022) 'Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia', Alzheimer's Research & Therapy, 2022, 14 (1), 118, pp. 1 - 12. doi:10.1186/s13195-022-01042-3.; https://bura.brunel.ac.uk/handle/2438/25149Test; https://doi.org/10.1186/s13195-022-01042-3Test
DOI: 10.1186/s13195-022-01042-3
الإتاحة: https://doi.org/10.1186/s13195-022-01042-3Test
https://bura.brunel.ac.uk/handle/2438/25149Test
حقوق: Copyright © The Author(s) 2022. Rights and permissions: Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/by/4.0Test/. The Creative Commons Public Domain Dedication waiver (https://creativecommons.org/publicdomain/zero/1.0Test/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. ; https://creativecommons.org/licenses/by/4.0Test/ ; The Author(s)
رقم الانضمام: edsbas.D5F1B8BE
قاعدة البيانات: BASE
الوصف
تدمد:17589193
DOI:10.1186/s13195-022-01042-3