Topic: tight junction genes

SYNGAP1-related encephalopathy is a rare neurodevelopmental disease characterized by diverse genetic mutations and phenotypic features. It is not known whether the blood-brain barrier (BBB) is affected in SYNGAP1 patients, therefore, this study aimed to establish a human induced pluripotent stem cell (hiPSC)-based BBB model of the SYNGAP1 disorder and identify relevant functional and molecular signatures. To establish the BBB models, SYNGAP1 knockout (KO), patient-derived hiPSC lines (Leu323Arg) and isogenic controls were differentiated into brain capillary endothelial-like cells and seeded on

Endothelial cells (ECs) tightly regulate the passage of ions, molecules, and cells from the blood into the brain and vice versa as part of the blood-brain barrier (BBB). Astrocytes aid in the formation and maintenance of the BBB. Aside from direct communication, astrocytes and ECs also release extracellular vesicles (EVs) to communicate with each other and other cells. EVs carry genetic information, proteins, and other signalling molecules. This cargo changes relative to the donor cell state, which can influence different processes in recipient cells.This project investigates this bi-direction