hrp0092fc9.1 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Using CRISPR/Cas9 Gene Editing to Study the Molecular Mechanisms of Congenital Hyperinsulinism (CHI)

Purushothaman Preetha , Walker Amy , Maeshima Ruhina , Hussain Khalid , Hart Stephen

Background: Congenital Hyperinsulinism(CHI) is characterized by the unregulated secretion of insulin in the presence of hypoglycaemia. The mutations in ABCC8 and KCNJ11, which encode the sulfonylurea receptor 1 (SUR1) and potassium inward-rectifying 6.2 (Kir6.2) subunits of ATP-sensitive potassium channel (K channel), are the most common identified cause of the condition. Defects in the HADH gene are responsible for SCHAD- HI, a rare form of the disease caused...

hrp0092p1-311 | Diabetes and Insulin (2) | ESPE2019

Optimisation of Transfection Methods Using DNA, RNA and Protein Formats for CRISPR Cas9 Mediated Gene Knock out in Beta-TC-6 Cells.

Purushothaman Preetha , Walker Amy , Hussain Khalid , Hart Stephen

Background: Beta-tumour cells (βTC) are a group of highly differentiated beta cell lines derived by expression of the SV40 T antigen (Tag) oncoprotein under control of the insulin promoter in transgenic mice. βTC-6 cells exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate insulin secretion.The CRISPR/Cas9 genome-editing platform is a versatile and pow...