Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease

Abstract

The field of megakaryocyte and platelet biology has been transformed with the implementation of high throughput sequencing. The use of modern sequencing technologies has led to the discovery of causative mutations in congenital platelet disorders and has been a useful tool in uncovering many other mechanisms of altered platelet formation and function. Although the understanding of the presence of RNA in platelets is relatively novel, mRNA and miRNA expression profiles are being shown to play an increasingly important role in megakaryopoiesis and platelet function in normal physiology as well as in disease states. Understanding the genetic perturbations underlying platelet dysfunction provides insight into normal megakaryopoiesis and thrombopoiesis, as well as guiding the development of novel therapeutics.

Keywords: RNA; congenital platelet disorders; genomics; megakaryocytes; platelets.

Figure 1

Megakaryopoiesis and the role of mRNA at various stages of thrombopoiesis. Simplified cartoon depicting megakaryopoiesis and thrombopoiesis with 1. mRNA being sorted into proplatelets 2. mRNA transferred to platelets released into circulation and 3. platelet microparticle (PMP) interaction with endothelial cells and release into circulation