Differential expression of endogenous retroelements (long terminal repeats) in ADA2 depleted primary endothelial cells (HUVECs)
Adenosine deaminase 2 deficiency (DADA2) is an inherited disorder which can cause vasculitis of medium-sized blood vessels. The disease is caused by mutations in the CECR1 gene, which encodes a key metabolic enzyme (ADA2) in the purine pathway. It is not clear how DADA2 leads to vasculitis, and there are currently limited treatment options. We, therefore, to discern the role of endogenous retroviral elements (ERV) in ADA2 associated vasculitis, studied the altered expression profile of endogenous retroelements in primary endothelial cells in ADA2 depleted setting.  The LTR specific transcriptional analysis revealed a robust increase in LTR signature in unstimulated siADA2-treated cells. Overall design: Three technical replicates of  each condition were taken 1. HUVEC transfected with non-targeting si RNA refrefred as Control and 2. HUVECs transfected with siRNA targeing ADA2 molecule refrered as ADA2.