Genes are like instruction manuals for our bodies, guiding how cells function. MYD88 gene provides instructions for making a protein involved in signalling (the process where cells communicate with each other through chemical signals) within immune cells. The MyD88 protein acts as an adapter, connecting proteins that receive signals from outside the cell to the proteins that relay signals inside the cell
What is the MYD88 Mutation?
The MYD88 gene provides instructions for making a protein that helps activate our immune system. In many people with WM, there’s a specific change, or mutation, in this gene known as L265P. This mutation leads to the continuous activation of certain pathways that promote the survival and growth of B-cells, a type of white blood cell involved in WM.
How Does MYD88 L265P Relate to WM?
Using whole-genome sequencing, the MYD88 L265P mutation was found in about 90% of people with WM.
This high prevalence of this mutation in people with WM is a significant marker that can be used for diagnosing WM, and helps distinguish it from other similar conditions.
Why is This Important?
Understanding the presence of the MYD88 mutation in WM cells has led to the development of targeted treatments. Certain medications can specifically address the effects of this mutation, offering more effective treatment options for patients with WM.
The MYD88 L265P mutation plays a role in the development and diagnosis of Waldenström’s macroglobulinemia and has a significant impact on treatment approaches.
