Molecular Neurodegeneration (Nov 2023)

Altered plasma protein profiles in genetic FTD – a GENFI study

  • Abbe Ullgren,
  • Linn Öijerstedt,
  • Jennie Olofsson,
  • Sofia Bergström,
  • Julia Remnestål,
  • John C. van Swieten,
  • Lize C. Jiskoot,
  • Harro Seelaar,
  • Barbara Borroni,
  • Raquel Sanchez-Valle,
  • Fermin Moreno,
  • Robert Laforce,
  • Matthis Synofzik,
  • Daniela Galimberti,
  • James B. Rowe,
  • Mario Masellis,
  • Maria Carmela Tartaglia,
  • Elizabeth Finger,
  • Rik Vandenberghe,
  • Alexandre de Mendonça,
  • Pietro Tirabosch,
  • Isabel Santana,
  • Simon Ducharme,
  • Chris R. Butler,
  • Alexander Gerhard,
  • Markus Otto,
  • Arabella Bouzigues,
  • Lucy Russell,
  • Imogen J. Swift,
  • Aitana Sogorb-Esteve,
  • Carolin Heller,
  • Jonathan D. Rohrer,
  • Anna Månberg,
  • Peter Nilsson,
  • Caroline Graff,
  • on behalf of the Genetic Frontotemporal Dementia Initiative (GENFI)

DOI
https://doi.org/10.1186/s13024-023-00677-6
Journal volume & issue
Vol. 18, no. 1
pp. 1 – 12

Abstract

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Abstract 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.

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