Sandbox Reserved 1653: Difference between revisions

According to studies, Piezo1 mutations are the cause of DHS.<ref name="Multiple clinical"> DOI 10.1182/blood-2013-02-482489</ref> Those mutations could provoke increases in permeability of cations in RBC by different mechanisms. It could induce mechanically activated currents that inactivate more slowly than wild-type currents. They could also affect the inactivation process by either destabilising the inactivated state or stabilising the channel in the open state. As a result, the open to inactivated state equilibrium shifts towards open. Na+ and Ca2+ ion influx consequently increase, and the intracellular K+ concentration decreases in a steady state. The evolution of Piezo1’s function steams from a change in its 3D structure. All the dehydrated hereditary stomatocytosis-associated mutations locate at C-terminal half of Piezo1, but the way it affects Piezo1’s structure is yet to be fully understood.<ref name = "Dehydrated"/>

== Relevance ==