The Role of Mechanotransduction in Blood Disorders
Rare mutations in PIEZO1 mechanically activated ion channels cause hereditary xerocytosis, a disorder characterized by red blood cell dehydration. Recently, comprehensive medical exams of xerocytosis patients identified other perplexing syndromes associated with PIEZO1 variants. We hypothesize that PIEZO1-dependent mechanotransduction could play important roles in various blood cell lineages, beyond its normal functions in erythrocytes. We use humanized mouse models to uncover the molecular basis of these disorders.
