What Are MPN Genetic Mutations?

Many MPNs are characterized by the abnormal growth of white blood cells, red blood cells and platelets – events that can be caused by genetic mutations.

In 2005, researchers discovered an important genetic mutation associated with the MPNs. Since then researchers have discovered additional mutations including the JAK2, CALR, TET2 and MPL gene markers.

Genetic Mutations and MPN Treatments

The discovery of genetic mutations has led to significant developments in the treatment of MPNs. For example, in the wake of identifying the JAK2 mutation, researchers and physicians have been able to inhibit the JAK2 gene with a variety of compounds including a JAK inhibitor which has been approved by the FDA as well as other drugs still being tested in clinical trials.

Research is ongoing to identify and explain genetic underpinnings for the cause of the MPNs. At the MPN Canadian Research Fund, our commitment to funding leading edge research in the area of MPN genetic mutations and gene therapies is just one of the ways that we drive improved patient outcomes and carry out our mission to work tirelessly to change the prognosis for MPN patients and their families.