Myeloproliferative disorder (MPD), otherwise known as blood cancer, is the overproduction of red and white cells, rendering a person more susceptible to stroke and heart attacks. A gene, JAK2, when mutated, sends abnormal messages to blood stem cells to produce more red and white blood cells.
In some individuals with a particular genetic makeup, their chromosome 9, which carries the JAK2 gene, is susceptible to mutation. Scientists hope to find out why JAK2 mutates, and why does it lead to an increased chance of MPD.
Research in the UK has confirmed that although only 40% of the population has the mutated JAK2 gene and only 1 in 20,000 people develop MPD, inheriting the JAK2 gene mutation triples the risk of developing MPD. According to Professor Nick Cross, half of the cases of polycythaemia vera (PV) are linked to the mutated gene within chromosome 9. PV is one of hte three main MPDs. Professor Cross wishes to determine how the mutated JAK2 contributes to the increased risk.