The use of single cell RNA-sequencing to unravel which cell type is the main driver in the development of Biglycan-related thoracic aortic aneurysms.

Progressive dilatation of the aorta leads to the development of thoracic aortic aneurysms, which are often asymptomatic but predispose to aortic dissection and rupture. The latter are associated with high mortality rates. In 2017, I identified loss-of-function (LOF) mutations in BGN, an X-linked gene, as a novel cause of a severe syndromic form of thoracic aortic aneurysms and dissections (TAAD) and is now designated as Meester-Loeys syndrome (MRLS). The general aim of this proposal is to identify which cell type is the main driver of the development of syndromic TAAD in patients with a BGN mutation. This key question will be addressed by taking advantage of the innovative single cell RNA-sequencing approach in a BGN knock-out mouse model.

Keywords:KNOCK OUT MOUSE, ANEURYSMS, BIGLYCAN, RNA SEQUENCING

Disciplines:Genetics, Vascular diseases