An inherited hypomorphic variant in PIEZO2 reveals structural features of mechanotransduction (+++)

https://pmc.ncbi.nlm.nih.gov/articles/PMC13588269/ New NCCIH Finding on PIEZO2 Advances Understanding of Touch and Proprioception A newly identified genetic change in the PIEZO2 gene has revealed a critical piece of how the body senses touch, movement, and position, according to a new study based on research conducted by the Sensory Cells and Circuits Lab at the National Center for Complementary and Integrative Health (NCCIH) and recently published in the journal Neuron. https://www.nccih.nih.gov/research/intramural/intramural-labs/sensory-cells-and-circuits-lab/about Researchers found that a single amino acid change can alter the function of the PIEZO2 protein and impair its ability to respond to mechanical force, helping explain a rare neurological condition in two fraternal twins who experience balance problems, impaired body-position sensing, and scoliosis. With this single amino acid change, PIEZO2 proteins, which sit in the outer membrane of cells and function as channels for ions to go through, appear to be locked in a closed state and unable to transition to opening. https://pubmed.ncbi.nlm.nih.gov/42636812/ The discovery adds insight to how the PIEZO2 protein converts physical force into nerve signals and could help guide future research into disorders affecting touch, proprioception, and other sensory functions that depend on PIEZO2 proteins.