دورية أكاديمية
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia
| العنوان: | Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia |
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| المؤلفون: | Sogorb-Esteve A., Nilsson J., Swift I. J., Heller C., Bocchetta M., Russell L. L., Peakman G., Convery R. S., van Swieten J. C., Seelaar H., Borroni B., Galimberti D., Sanchez-Valle R., Laforce R., Moreno F., Synofzik M., Graff C., Masellis M., Tartaglia M. C., Rowe J. B., Vandenberghe R., Finger E., Tagliavini F., Santana I., Butler C. R., Ducharme S., Gerhard A., Danek A., Levin J., Otto M., Sorbi S., Le Ber I., Pasquier F., Gobom J., Brinkmalm A., Blennow K., Zetterberg H., Rohrer J. D., Nelson A., Bouzigues A., Greaves C. V., Cash D., Thomas D. L., Todd E., Benotmane H., Nicholas J., Samra K., Shafei R., Timberlake C., Cope T., Rittman T., Benussi A., Premi E., Gasparotti R., Archetti S., Gazzina S., Cantoni V., Arighi A., Fenoglio C., Scarpini E., Fumagalli G., Borracci V., Rossi G., Giaccone G., Di Fede G., Caroppo P., Tiraboschi P., Prioni S., Redaelli V., Tang-Wai D., Rogaeva E., Castelo-Branco M., Freedman M., Keren R., Black S., Mitchell S., Shoesmith C., Bartha R., Rademakers R., Poos J., Papma J. M., Giannini L., van Minkelen R., Pijnenburg Y., Nacmias B., Ferrari C., Polito C., Lombardi G., Bessi V., Veldsman M., Andersson C., Thonberg H., Oijerstedt L., Jelic V., Thompson P., Langheinrich T., Llado A., Antonell A., Olives J., Balasa M., Bargallo N., Borrego-Ecija S., de Mendonca A., Verdelho A., Maruta C., Ferreira C. B., Miltenberger G., do Couto F. S., Gabilondo A., Gorostidi A., Villanua J., Canada M., Tainta M., Zulaica M., Barandiaran M., Alves P., Bender B., Wilke C., Graf L., Vogels A., Vandenbulcke M., Van Damme P., Bruffaerts R., Poesen K., Rosa-Neto P., Gauthier S., Camuzat A., Brice A., Bertrand A., Funkiewiez A., Rinaldi D., Saracino D., Colliot O., Sayah S., Prix C., Wlasich E., Wagemann O., Loosli S., Schonecker S., Hoegen T., Lombardi J., Anderl-Straub S., Rollin A., Kuchcinski G., Bertoux M., Lebouvier T., Deramecourt V., Santiago B., Duro D., Leitao M. J., Almeida M. R., Tabuas-Pereira M., Afonso S. |
| المساهمون: | Sogorb-Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Bocchetta, M., Russell, L. L., Peakman, G., Convery, R. S., van Swieten, J. C., Seelaar, H., Borroni, B., Galimberti, D., Sanchez-Valle, R., Laforce, R., Moreno, F., Synofzik, M., Graff, C., Masellis, M., Tartaglia, M. C., Rowe, J. B., Vandenberghe, R., Finger, E., Tagliavini, F., Santana, I., Butler, C. R., Ducharme, S., Gerhard, A., Danek, A., Levin, J., Otto, M., Sorbi, S., Le Ber, I., Pasquier, F., Gobom, J., Brinkmalm, A., Blennow, K., Zetterberg, H., Rohrer, J. D., Nelson, A., Bouzigues, A., Greaves, C. V., Cash, D., Thomas, D. L., Todd, E., Benotmane, H., Nicholas, J., Samra, K., Shafei, R., Timberlake, C., Cope, T., Rittman, T., Benussi, A., Premi, E., Gasparotti, R., Archetti, S., Gazzina, S., Cantoni, V., Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Borracci, V., Rossi, G., Giaccone, G., Di Fede, G., Caroppo, P., Tiraboschi, P., Prioni, S., Redaelli, V., Tang-Wai, D., Rogaeva, E., Castelo-Branco, M., Freedman, M., Keren, R., Black, S., Mitchell, S., Shoesmith, C., Bartha, R., Rademakers, R., Poos, J., Papma, J. M., Giannini, L., van Minkelen, R., Pijnenburg, Y., Nacmias, B., Ferrari, C., Polito, C., Lombardi, G., Bessi, V., Veldsman, M., Andersson, C., Thonberg, H., Oijerstedt, L., Jelic, V., Thompson, P., Langheinrich, T., Llado, A., Antonell, A., Olives, J., Balasa, M. |
| سنة النشر: | 2022 |
| المجموعة: | Università degli Studi di Trento: CINECA IRIS |
| مصطلحات موضوعية: | Biomarker, Frontotemporal dementia, Synaptic dysfunction, C9orf72 Protein, Human, Mutation, Neurogranin, Syntaxin 1, beta-Synuclein, gamma-Synuclein, tau Protein |
| الوصف: | 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 mutation carriers only (decreased compared with controls). No changes were seen in the CSF levels of these proteins in presymptomatic mutation carriers. Concentrations of the neuronal pentraxins ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/36045450; info:eu-repo/semantics/altIdentifier/wos/WOS:000849343700001; volume:14; issue:1; firstpage:11801; lastpage:11812; numberofpages:12; journal:ALZHEIMER'S RESEARCH & THERAPY; https://hdl.handle.net/11572/357782Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137025776; https://alzres.biomedcentral.com/articles/10.1186/s13195-022-01042-3#rightslinkTest |
| DOI: | 10.1186/s13195-022-01042-3 |
| DOI: | 10.1186/s13195-022-01042-3#rightslink |
| الإتاحة: | https://doi.org/10.1186/s13195-022-01042-3Test https://hdl.handle.net/11572/357782Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.E1140CD9 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s13195-022-01042-3 |
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