Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection

摘要: Summary Hereditary xerocytosis is thought to be a rare genetic condition characterized by red blood cell (RBC) dehydration with mild hemolysis. RBC linked reduced Plasmodium infection in vitro ; however, the role of in protection against malaria in vivo unknown. Most cases hereditary are associated gain-of-function mutations PIEZO1, mechanically activated ion channel. We engineered mouse model and show that fails cause experimental cerebral these mice due action Piezo1 RBCs T cells. Remarkably, we identified novel human PIEZO1 allele, E756del, present third African population. from individuals carrying this allele dehydrated display . The existence at such high frequencies surprising suggests an association resistance.