Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome

Michal Taler*, Ehud Mekori–Domachevsky, Elfi Vergaelen, Stephan Claes, Yaffa Serur, Shira Dar, Yael Levy-Shraga, Abraham Weizman, Ann Swillen, Doron Gothelf

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


 : 22q11.2 deletion syndrome (22q11.2DS) is characterised by high rates of psychotic disorders and immune abnormalities. Blood–brain barrier (BBB) permeability is known to be a risk factor for schizophrenia and immune aberrations. Objective: To evaluate the relationship between psychosis and BBB permeability in this population. Methods: We examined two biomarkers for BBB permeability, s100β and neuron-specific enolase (NSE), in 22q11.2DS individuals with/without psychosis. The first cohort of this Israeli–Belgium study was comprised of 20 22q11.2DS adults (30.58 ± 9.42 years) afflicted with a psychotic disorder, another group of 69 non-psychotic 22q11.2DS adults (23.42 ± 8.36 years), and 58 healthy controls (26.39 ± 7.77 years). A second cohort was comprised of 18 non-psychotic 22q11.2DS Israeli children (5.83 ± 1.55 years) and 14 healthy controls (5.34 ± 1.43 years). NSE and s100β serum levels were detected in all participants. Results: Both factors were elevated in adults with 22q11.2DS compared to healthy controls, specifically in the non-psychotic sub-group. In contrast, there were no significant differences in their levels between the two groups of the paediatric cohort. Conclusions: Increased BBB permeability seems to be a trait of 22q11.2DS that evolves sometime in early adulthood. Our findings are in line with previous reports on non-syndromic schizophrenia, and suggest potential novel neural pathways to psychosis in 22q11.2DS.

Original languageEnglish
Pages (from-to)475-482
Number of pages8
JournalWorld Journal of Biological Psychiatry
Issue number6
StatePublished - 2022


FundersFunder number
National Institute for Psychobiology in Israel
United States-Israel Binational Science Foundation2017369


    • 22q11.2DS
    • blood–brain barrier (BBB)
    • neuron-specific enolase (NSE)
    • psychosis
    • s100β


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