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March 26, 2026Translational PsychiatryOpen Access

SHANK3 and beta-synuclein are novel blood-based biomarkers for the Phelan-McDermid Syndrome: a pilot study

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Authors

JPJessica PaganoAAAndrea Perez ArevaloANAnastasia Nosanova

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Overview

Pilot study demonstrates SHANK3 and beta-synuclein correlate with symptom severity in Phelan-McDermid syndrome, indicating potential for monitoring.

Key Points

  • The study aims to identify blood-based biomarkers associated with Phelan-McDermid syndrome and their relationship to symptom severity.
  • Pilot study involving 23 individuals with PMS
  • Comparison of biomarkers in peripheral blood mononuclear cells and plasma between PMS patients and controls
  • Analysis of biomarker levels relating to symptom severity
  • Back-translation of findings in a Shank3 transgenic mouse model
  • SHANK3 protein levels in PBMCs were reduced by 77% in PMS compared to controls
  • Elevated plasma levels of beta-synuclein were associated with speech impairment severity
  • Potential for SHANK3 and beta-synuclein to serve as biomarkers for monitoring disease progression and treatment response.

Cite This Study

Pagano et al. (2026) studied this question.

synapsesocial.com/papers/69c4cda5fdc3bde44891a411https://doi.org/10.1038/s41398-026-03932-8
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Analysis of whole genome biomarker expression in blood and brain2010 · 215 citations
  2. 2Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome2023 · 43 citations
  3. 3Psychiatric illness and regression in individuals with Phelan-McDermid syndrome2020 · 91 citations
  4. 4Updated consensus guidelines on the management of Phelan–McDermid syndrome2023 · 52 citations
  5. 5A patient with the classic features of Phelan‐McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72‐Mb deletion in the 22q13.2 region2013 · 28 citations