How does a faulty JAK2 gene cause bleeding in blood cancer?

Understanding the roles of JAK2V617F in aberrant thrombosis and haemostasis

Dr Ian Hitchcock and colleagues at the University of York are studying myeloproliferative neoplasms (MPN) - a type of blood cancer commonly caused by a fault in a gene called JAK2. The most common causes of illness and death in people with MPN are either blood clots or bleeding problems, but we don’t currently understand how these develop. Dr Hitchcock has discovered that mice with the faulty JAK2 gene in their endothelial cells (cells that line the blood vessel) form smaller blood clots after damage to a blood vessel. In this project, and using cells from both mice and people, he will work out how blood vessel cells with a faulty JAK2 gene are different from healthy blood vessel cells. He wants to find out how faulty the JAK2 gene changes the endothelial cells of people with MPN, and if this explains why they are more likely to develop clotting and bleeding problems. By better understanding how a faulty JAK2 gene affects endothelial cells, this research will help explain clotting and bleeding problems in people with MPN. It could ultimately lead to better ways to diagnose and treat this condition.