New 22q11 Europe Podcast : Episodes 11, 12 and 13

Episode 11 - Oxytocin Seals Brain Barriers in 22q11.2DS Mice

• Featured Research Article: Oxytocin seals the blood–brain barrier, improving 22q11.2 deletion syndrome trajectories
• Abstract: For parents and relatives concerned about 22q11.2 Deletion Syndrome (22q11.2DS), recent research offers promising insights into potential early interventions. This study, conducted using a mouse model of 22q11.2DS, helps us understand how genetic factors in the syndrome interact with the immune system to affect brain development.
• Reference: Castellani, G., Ciampoli, M., Benedetti, A., Ferretti, V., Trigilio, G., Barcik, W., ... & Papaleo, F. (2025). Oxytocin seals the blood–brain barrier, improving 22q11.2 deletion syndrome trajectories. Brain

Episode 12 - Platelet Changes and Bleeding in 22q11.2 Deletion Syndrome

• Featured Research Article: Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome
• Abstract: This podcast comments, a recent publication in the journal Pediatric Blood & Cancer examines platelet changes and bleeding symptoms in individuals with 22q11.2 deletion syndrome (22q11.2DS), a genetic condition impacting various bodily systems. The study, conducted between 2022 and 2023, enrolled 32 patients (children, adolescents, and adults) to investigate clinical information, including bleeding symptoms, platelet counts, and glycoprotein Ib (GPIb) expression levels. Findings indicate that platelet counts significantly decreased with age in 22q11.2DS patients, and GPIb expression levels were lower compared to healthy controls, irrespective of age. Despite these observed platelet abnormalities, the researchers found no significant difference in the severity of daily bleeding symptoms between children and older patients, with most spontaneous bleeding events being minor. However, the study suggests that hemostasis may be more significantly affected during surgery or trauma, highlighting the need for further data collection in these specific scenarios.
• Reference: Sakamoto, A., Uchiyama, T., Futatsugi, R., Ohara, O., Iguchi, A., Kaname, T., Hikosaka, M., Ono, H., Kunishima, S., Ito, S. et Ishiguro, A. (2022). Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome. Pediatric Blood & Cancer, 69(12), e31292. https://doi.org/10.1002/pbc.31292

Episode 13 - Mitochondrial Rescue in 22q11

• Abstract: This scientific research article investigates the blood-brain barrier (BBB) in the context of 22q11.2 deletion syndrome (22qDS), a condition linked to various neuropsychiatric disorders. The authors explore the hypothesis that mitochondrial dysfunction contributes to impaired BBB integrity and associated behavioral issues in 22qDS. Using both human stem cell-derived models and mouse models of the syndrome, they demonstrate mitochondrial deficitswithin BBB endothelial cells. Crucially, the study finds that treatment with bezafibrate, a drug known to enhance mitochondrial biogenesis, improves both mitochondrial function and the barrier integrity of the BBB in these models. This improvement in the BBB also correlates with a restoration of social memory deficits observed in the mouse model of 22qDS, suggesting a potential therapeutic pathway.
• Reference: Crockett, A. M., Vélez Colόn, M. C., Kebir, H., Smith, F. M., Iascone, D. M., Ciesielski, B., Koshkin, S., Patterson, A. D., Rossano, A. J., Sehgal, A., Anderson, S. A., & Alvarez, J. I. (2025). Bezafibrate improves mitochondrial function, blood-brain barrier integrity, and social deficits in models of 22q11.2 deletion syndrome. Science Translational Medicine, 17(812), eads2116. https://doi.org/10.1126/scitranslmed.....