Altered plasma protein profiles in genetic FTD – a GENFI study

• Author(s): Ullgren, Abbe ; Öijerstedt, Linn ; Olofsson, Jennie ; Bergström, Sofia ; Remnestål, Julia ; van Swieten, John C. ; Jiskoot, Lize C. ; Seelaar, Harro ; Borroni, Barbara ; Sanchez-Valle, Raquel ; Moreno, Fermin ; Peakman, Georgia ; Pievani, Michela ; Pijnenburg, Yolande ; Premi, Enrico ; Prioni, Sara ; Rademakers, Rosa ; Redaelli, Veronica ; Rinaldi, Daisy ; Rittman, Tim ; Rogaeva, Ekaterina ; Laforce, Robert ; Rollin, Adeline ; Rosa-Neto, Pedro ; Rossi, Giacomina ; Rosser, Martin ; Scarpini, Elio ; Semler, Elisa ; Shafei, Rachelle ; Shoesmith, Christen ; Tábuas-Pereira, Miguel ; Tainta, Mikel ; Synofzik, Matthis ; Taipa, Ricardo ; Tang-Wai, David ; Thomas, David L. ; Thompson, Paul ; Thonberg, Håkan ; Timberlake, Carolyn ; Todd, Emily ; Van Damme, Philip ; Vandenbulcke, Mathieu ; Veldsman, Michele ; Galimberti, Daniela ; Verdelho, Ana ; Villanua, Jorge ; Warren, Jason ; Wilke, Carlo ; Woollacott, Ione ; Zetterberg, Henrik ; Zulaica, Miren ; Durães, João ; Lima, Marisa ; Lemos, João ; Rowe, James B. ; Masellis, Mario ; Tartaglia, Maria Carmela ; Finger, Elizabeth ; Vandenberghe, Rik ; De Mendonça, Alexandre ; Tirabosch, Pietro ; Santana, Isabel ; Ducharme, Simon ; Butler, Chris R. ; Gerhard, Alexander ; Otto, Markus ; Bouzigues, Arabella ; Russell, Lucy ; Swift, Imogen J. ; Sogorb-Esteve, Aitana ; Heller, Carolin ; Rohrer, Jonathan D. ; Månberg, Anna ; Nilsson, Peter ; Graff, Caroline ; Afonso, Sónia ; Almeida, Maria Rosario ; Anderl-Straub, Sarah ; Andersson, Christin ; Antonell, Anna ; Arighi, Andrea ; Balasa, Mircea ; Barandiaran, Myriam ; Bargalló, Nuria ; Bartha, Robart ; Bender, Benjamin ; Buratti, Emanuele ; Benussi, Luisa ; Bertoux, Maxime ; Binetti, Giuliano ; Black, Sandra ; Bocchetta, Martina ; Borrego-Ecija, Sergi ; Bras, Jose ; Bruffaerts, Rose ; Cañada, Marta ; Cantoni, Valentina ; Caroppo, Paola ; Cash, David ; Castelo-Branco, Miguel ; Convery, Rhian ; Cope, Thomas ; Deramecourt, Vincent ; Di Fede, Giuseppe ; Díez, Alina ; Fenoglio, Chiara ; Ferreira, Catarina B. ; Fox, Nick ; Freedman, Morris ; Fumagalli, Giorgio ; Funkiewiez, Aurélie ; Gabilondo, Alazne ; Gasparotti, Roberto ; Gauthier, Serge ; Alberici, Antonella ; Giaccone, Giorgio ; Gorostidi, Ana ; Greaves, Caroline ; Guerreiro, Rita ; Indakoetxea, Begoña ; Jelic, Vesna ; Karnath, Hans-Otto ; Keren, Ron ; Kuchcinski, Gregory ; Langheinrich, Tobias ; Lebouvier, Thibaud ; Leitão, Maria João ; Lladó, Albert ; Maruta, Carolina ; Meeter, Lieke ; Miltenberger-Miltenyi, Gabriel ; van Minkelen, Rick ; Mitchell, Sara ; Moore, Katrina ; Nicholas, Jennifer ; Olives, Jaume ; Ourselin, Sebastien ; Padovani, Alessandro ; Panman, Jessica ; Papma, Janne M.
• Date: 2023
• Persistent ID: http://hdl.handle.net/10451/60956
• Origin: Repositório da Universidade de Lisboa
• Subject(s): C9orf72; Frontotemporal dementia; GRN; MAPT; Neurodegeneration; Plasma biomarkers
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório Científico de Acesso Aberto da ULisboa

Description

Background: Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The aim of this study was to explore the levels of multiple plasma proteins in individuals from families with genetic frontotemporal dementia. Methods: Blood samples from 693 participants in the GENetic Frontotemporal Dementia Initiative study were analysed using a multiplexed antibody array targeting 158 proteins. Results: We found 13 elevated proteins in symptomatic mutation carriers, when comparing plasma levels from people diagnosed with genetic FTD to healthy non-mutation controls and 10 proteins that were elevated compared to presymptomatic mutation carriers. Conclusion: We identified plasma proteins with altered levels in symptomatic mutation carriers compared to non-carrier controls as well as to presymptomatic mutation carriers. Further investigations are needed to elucidate their potential as fluid biomarkers of the disease process.