Thrombocytopenia: A Defect in Actin Dynamics?

Abstract

The actin cytoskeleton plays many important roles in the lifecycle of platelets, from biogenesis from megakaryocytes, to activation and clearance from the circulation. It is therefore unsurprising that mutations in genes regulating the dynamics of this cytoskeleton lead to numerous inherited thrombocytopenias. A diverse array of proteins are affected, including actin nucleators, structural proteins, myosin motors, and transcriptional regulators. This review summarises the current understanding of how genetic dysregulation of the actin cytoskeleton can contribute to the pathogenesis of thrombocytopenia.

Keywords

• Actin cytoskeleton (AC)
• thrombocytopenia
• platelets
• megakaryocytes (MK)
• Wiskott–Aldrich syndrome (WAS)