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== Disease ==
== Disease ==
[https://en.wikipedia.org/wiki/Hereditary_stomatocytosis Dehydrated hereditary stomatocytosis] (DHS) is a genetic disease with impaired red blood cell (RBC) membrane properties that affect intracellular cation concentrations. (Al) The RBCs are abnormally shaped and they result in [https://en.wikipedia.org/wiki/Hemolytic_anemia haemolytic anaemia].
[https://en.wikipedia.org/wiki/Hereditary_stomatocytosis Dehydrated hereditary stomatocytosis] (DHS) is a genetic disease with impaired red blood cell (RBC) membrane properties that affect intracellular cation concentrations. (Al)<ref name="Dehydrated"> DOI 10.1038/ncomms2899</ref> The RBCs are abnormally shaped and they result in [https://en.wikipedia.org/wiki/Hemolytic_anemia haemolytic anaemia].
Piezo1 is expressed in the plasma membranes of RBCs, and its role is to control RBCs’s osmolarity. It also plays a prevalent role in the [https://en.wikipedia.org/wiki/Erythropoiesis erythroid differentiation]. Mutations in PIEZO1 distort mechanosensitive channel regulation, leading to increased cation transport in [https://en.wikipedia.org/wiki/Red_blood_cell erythroid cells]. (ad) <ref name="Multiple clinical"> DOI 10.1182/blood-2013-02-482489</ref>
Piezo1 is expressed in the plasma membranes of RBCs, and its role is to control RBCs’s osmolarity. It also plays a prevalent role in the [https://en.wikipedia.org/wiki/Erythropoiesis erythroid differentiation]. Mutations in PIEZO1 distort mechanosensitive channel regulation, leading to increased cation transport in [https://en.wikipedia.org/wiki/Red_blood_cell erythroid cells].


According to studies, piezo1 mutations are the cause of DHS. (ad) 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 increases, and the intracellular K+ concentration decreases in a steady state. (al)
According to studies, piezo1 mutations are the cause of DHS. (ad)<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 increases, 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. (Al)
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. (Al)<ref name = "Dehydrated"/>


== Relevance ==
== Relevance ==

Revision as of 22:15, 9 January 2021

Piezo 1

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References