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Contribution title The potential of circulating brain derived protein as a biomarker in infants at risk of Autism Spectrum Disorder 
Contribution code D1.019
Authors
  1. Audrey Bringaud CHUV Presenter
  2. Valentin Zufferey CHUV & University of Lausanne
  3. Pierre Marquet CHUV & University of Lausanne
  4. Sonia Richetin CHUV (Centre Hospitalier Universitaire Vaudois) - Centre Cantonal Autisme
  5. Sebastien Jacquemont AC Immune SA, Lausanne, Switzerland
  6. Borja Rodriguez-Herreros STSA, Lausanne University Hospital
  7. Nadia Chabane CHUV & Université de Lausanne
  8. Kevin Richetin CHUV & University of Lausanne
Form of presentation Poster
Topic
  • T04 - ASD
Abstract Aims: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with significant clinical and etiological heterogeneity, posing a major challenge for early detection and intervention. Emerging research suggests that microtubule associated protein, commonly associated with neurodegenerative diseases, may also be relevant in neurodevelopmental processes associated to ASD. This study aims to explore whether circulating brain-derived protein can be reliably measured in pediatric biofluids —plasma, saliva, and urine— of children with ASD and typically developing controls.

Methods: Plasma samples have been collected from children diagnosed with ASD and a control group of individuals with a copy number variant (CNV) at the 16p11.2 locus, previously associated with the risk to develop neurodevelopmental and psychiatric disorders. Brain derived protein levels will be measured using a set of appropriate biochemical techniques and Live Cell-based assay.

Results: We present preliminary findings supporting the feasability of detection and quantification of brain-derived proteins in biofluid plasma, revealing significant differences based on diagnostic status. In particular, the study of signatures of circulating brain-derived extracellular vesicles suggests a promising tool to explore their relationship between neurobiology and behavioral characteristics of ASD.

Conclusion: This research represents an innovative attempt to measure circulating brain derived protein in pediatric biofluids, potentially paving the way for the identification of new biomarkers of ASD. Integrating clinical and biological markers to better understand brain derived proteins’ involvement in neurodevelopment could provide crucial insights into the neurobiological mechanisms underlying ASD and inform strategies for early intervention.