The Piezo-type mechanosensitive ion channel component 2 or PIEZO2 protein is linked to mechanically-activated (MA) cation channels connecting mechanical forces to biological signals. Loss of function (LOF) of this protein leads to an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis along with impairments in the functioning of somatosensory neurons. It can also lead to the absence of proprioception (the ability to perceive the awareness of one’s own body movements and positions) and light touch. Currently, there are no pharmacological treatments for individuals affected with PIEZO2-LOF.
Reference: Wearable haptic device for individuals with congenital absence of proprioception. arXiv: 2206.08930 [cs.HC]. What measures can be taken to raise awareness about PIEZO2-LOF?
