If she wasn’t looking at her limbs, the girl didn’t seem to have any clue where they were. She lacked the sense of her body’s position in space, a crucial ability known as proprioception. “This is something that just doesn’t occur,” says [pediatric neurologist Carsten] Bönnemann.
His team sequenced the girl’s genes, and those of another girl with similar symptoms, and found mutations in a gene called PIEZO2. Their timing was fortunate: just a few years earlier, researchers looking for the mechanisms that cells use to sense touch had found that the gene encoded a pressure-sensitive protein.
The discovery of Piezo2 and a related protein, Piezo1, was a high point in a decades-long search for the mechanisms that control the sense of touch. The Piezos are ion channels — gates in the cell membrane that allow ions to pass through — that are sensitive to tension.
Touch underlies the functioning of almost every tissue and cell type, says [molecular neurobiologist Ardem] Patapoutian. Organisms interpret forces to understand their world, to enjoy a caress and to avoid painful stimuli.
Already, researchers are beginning to think about targeting force-sensing proteins with medicines to treat, for example, chronic pain.
Read full, original post: The quest to decipher how the body’s cells sense touch