Researchers have found 68 regions of genome that affects the size and number of platelets, which are responsible for clotting of the blood and healing of wounds. An increase in the number of platelets causes thrombotic events such as strokes and heart attacks while a decrease in the number of platelets results in abnormal bleeding.
This research has been performed by an international team of researchers and published online in the November 30 issue of the Journal Nature.
In this study, researchers worked on genome wide meta-analysis of almost 68,000 individuals and have combined different advanced techniques and used a series of biological analyses to identify the new genetic variants involved in the formation of the platelets. In the research process, researchers firstly identify the genes involved in the formation of platelets through biological observations of these genes leading to the construction of protein-protein interaction network, showing how they interact, and near the end of the research they found the role of the genes in model organisms i.e. fruit fly and zebra fish.
Researchers found that decreasing the activity of one of these genes i.e. ARHGEF2 in fish, abolishes the production of platelets and red blood cells as the ability of blood forming cells to capture iron abolishes.Another member of the family of genes involved in platelet formation is Tropomyosin 1. Previously found roles of this were muscle contraction and in heart disease.
Researchers found that the genes involved in the platelet characteristics overlap with other genes involved in hereditary bleeding disorders. This proves the importance of this research in the clinical findings of platelet related disorders.
Gieger, C., et. al. (2011). New gene functions in megakaryopoiesis and platelet formation. Nature, doi:10.1038/nature10659