TY - JOUR
T1 - Blood brain barrier permeability increases with age in individuals with 22q11.2 deletion syndrome
AU - Taler, Michal
AU - Mekori–Domachevsky, Ehud
AU - Vergaelen, Elfi
AU - Claes, Stephan
AU - Serur, Yaffa
AU - Dar, Shira
AU - Levy-Shraga, Yael
AU - Weizman, Abraham
AU - Swillen, Ann
AU - Gothelf, Doron
N1 - Publisher Copyright:
© 2021 Informa UK Limited, trading as Taylor & Francis Group.
PY - 2022
Y1 - 2022
N2 - : 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.
AB - : 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.
KW - 22q11.2DS
KW - blood–brain barrier (BBB)
KW - neuron-specific enolase (NSE)
KW - psychosis
KW - s100β
UR - http://www.scopus.com/inward/record.url?scp=85121541422&partnerID=8YFLogxK
U2 - 10.1080/15622975.2021.2013090
DO - 10.1080/15622975.2021.2013090
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C2 - 34854358
AN - SCOPUS:85121541422
SN - 1562-2975
VL - 23
SP - 475
EP - 482
JO - World Journal of Biological Psychiatry
JF - World Journal of Biological Psychiatry
IS - 6
ER -