What’s New in 22q - Podcast Episode 8 - Vitamin B12 on Brain Metabolism in 22q11 DS
Автор: 22q11 Europe
Загружено: 2025-09-19
Просмотров: 194
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🎙️ Podcast Description:
This podcast focus at recent scientific studies about 22q11.2 Deletion Syndrome. Together, we break down research that helps us better understand different parts of this complex syndrom.
🧠 Featured Research Article:
Brain and behavioural anomalies caused by Tbx1
haploinsufficiency are corrected by vitamin B12 (2024)
💬 Abstract:
The brain-related phenotypes observed in 22q11.2 deletion syndrome (DS) patients are highly variable, and their origin is poorly understood. Changes in brain metabolism might contribute to these phenotypes, as many of the deleted genes are involved in metabolic processes, but this is unknown. This study shows for the first time that Tbx1 haploinsufficiency causes brain metabolic imbalance and how vitamin B12 treatment can rescue a behavioural anomaly in Tbx1+/2 mice.
📖 Reference : Caterino, M., Paris, D., Torromino, G., Costanzo, M., Flore, G., Tramice, A., Golini, E., Mandillo, S., Cavezza, D., Angelini, C., Ruoppolo, M., Motta, A., De Leonibus, E., Baldini, A., Illingworth, E., & Lania, G. (2024). Brain and behavioural anomalies caused by Tbx1 haploinsufficiency are corrected by vitamin B12. Life Science Alliance, 7(11), e202403075. https://doi.org/10.26508/lsa.202403075
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