Evaluation of how mechanotransduction contributes to human health and disease
Principal Investigator: Dr Ardem Patapoutian
Approved Research ID: 41471
Approval date: February 5th 2019
Perception of touch, pain, hearing, and regulation of blood pressure share a common mechanism: the sensing of mechanical forces. PIEZO channels, proteins discovered by our group, are the professional sensors for mechanical forces. It is known that rare genetic variants of these channels lead to neuronal or blood disorders. However, a complete evaluation of how PIEZOs contribute to human disease has been difficult. We will use the unique resource of UK Biobank to characterize the role of human PIEZO genetic variants across a wide range of traits and diseases. We have animal models engineered with PIEZO proteins of altered properties to investigate detailed mechanisms at molecular level. This new knowledge will inform medical diagnostics and help develop new drug targets of treatment.