Imagine a world wherein everything is dark and you have to stand up and walk from point A to point B. In the same world, imagine where you can see your limbs but you can't understand the directions they're in. PIEZO2 is the gene that allows us to relate with the world without experiencing the difficulty of maintaining balance when we walk and reach for things right in front of us.
In a study published in the New England Journal of Medicine, scientists pinpointed the gene through two patients with the same neurological disorder. The patients suffered severe ataxia (loss of control over bodily movements) and dysmetria (loss of coordination). The patients stumbled and required help when they were made to stand up and walk with a blindfold. They also had problems responding to a variety of touches.
To make up for the loss of coordination and balance, the patients relied primarily on vision and used their other senses to make sense of the world around them.
"The results establish that PIEZO2 is a touch and proprioception gene in humans. Understanding its role in these senses may provide clues to a variety of neurological disorders," said Carsten G. Bönnemann, the co-author of the study, as reported by a news release in National Institutes of Health (NIH).
Through several tests including a study of the gene in mice, the scientists determined that PIEZO2 is not active in both unrelated patients, which led them to conclude that the gene is a mechanosensitive protein. Though the concept of mechanosensation has not been fully defined as of yet, the basics of it is that it is responsible for movement, balance, hearing, and touch.
"As someone who studies PIEZO2 in mice, working with these patients was humbling," said Dr. NIH, investigator and co-author of the study Alexander T. Chesler. "Our results suggest they are touch-blind. The patient's version of Piezo2 may not work, so their neurons cannot detect touch or limb movements."
While a lot of it still unclear including the very makeup of the gene and what it impairs specifically, this scientific breakthrough is expected to explain at least some of the things that we don't know about several neurological disorders.
