Searchable abstracts of presentations at key conferences in endocrinology

ea0066p5 | Adrenal, Gonadal, DSD and Reproduction, and Basic Science | BSPED2019

Optimisation of transfection methods using various formats of gRNA delivery for CRISPR Cas9 mediated gene knock out in Beta-TC-6 cells

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

Background: The CRISPR/Cas9 genome-editing platform is a powerful technology to create genetically engineered cells and organisms. However, the success of CRISPR genome editing experiments is limited by the intracellular delivery and expression of Cas9 endonuclease protein and guide RNA (gRNA). Beta-tumour cells (βTC-6), derived from transgenic mice, exhibit glucose stimulated insulin secretion which makes them a valuable tool in understanding the mechanisms that regulate...

ea0066p67 | Learning from Mistakes and Miscellaneous | BSPED2019

Using CRISPR/Cas9 gene editing to study the molecular mechanisms of congenital hyperinsulinism (CHI)

Purushothaman Preetha , Walker Amy , Maeshima Ruhina , Attwood Martin , 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 by the disruptio...