Synaptic Processes and Immune-Related Pathways Implicated in Tourette Syndrome

    April 2020 in “ medRxiv (Cold Spring Harbor Laboratory) ”
    Fotis Tsetsos, Dongmei Yu, Jae Hoon Sul, Alden Huang, Cornelia Illmann, Lisa Osiecki, Sabrina M. Darrow, Matthew E. Hirschtritt, Erica Greenberg, Kirsten Müller-Vahl, Manfred Stuhrmann, Yves Dion, Guy A. Rouleau, H.N. Aschauer, M. Stamenkovic, Monika Schlögelhofer, Paul Sandor, Cathy L. Barr, Marco A. Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Anke Hinney, Robert A. King, Thomas Fernandez, Csaba Barta, Zsanett Tárnok, Péter Nagy, Christel Depienne, Yulia Worbe, Andreas Hartmann, Cathy L. Budman, Renata Rizzo, Gholson J. Lyon, William M. McMahon, James R. Batterson, Daniëlle C. Cath, Irene A. Malaty, Michael S. Okun, Cheston M. Berlin, Douglas W. Woods, Paul C. Lee, Joseph Jankovic, Mary M. Robertson, Donald L. Gilbert, Lawrence W. Brown, Barbara J. Coffey, Andrea Dietrich, Pieter J. Hoekstra, Samuel Kuperman, Samuel H. Zinner, Michael Wagner, James A. Knowles, A. Jeremy Willsey, Jay A. Tischfield, Gary A. Heiman, Nancy J. Cox, Nelson B. Freimer, Benjamin M. Neale, Lea K. Davis, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Peristera Paschou
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    TLDR The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
    The study "Synaptic processes and immune-related pathways implicated in Tourette Syndrome" conducted a genome-wide analysis on 3581 individuals with Tourette Syndrome (TS) and 7682 ancestry-matched controls. The study aimed to understand the neurobiology of TS, a complex neuropsychiatric disorder. The analysis identified three significant gene sets: Ligand-gated Ion Channel Signaling, Lymphocytic, and Cell Adhesion and Trans-synaptic Signaling processes. The involvement of the Lymphocytic gene set, driven by variants in FLT3, suggested a potential role of neuroinflammation in TS pathogenesis. The Ligand-gated Ion Channel Signaling gene set reinforced the role of GABA in TS, while the association of Cell Adhesion and Trans-synaptic Signaling gene set provided additional support for the role of adhesion molecules in neuropsychiatric disorders.
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