With the help of two young patients, one nine and the other 19 years old, have a unique neurological disorder, scientists discovered that the gene called PIEZO2 controls specific aspects of human touch and the “sixth sense” called proprioception.
Mutations in the gene that causes both have problems with movement and balance and loss of some forms of contact. Despite its difficulties, both appeared to address these challenges by relying heavily on sight and other senses.
“Our study highlights the critical importance of PIEZO2 and senses under control in our daily life,” said Carsten G Bonnemann, of the National Institutes of National Health Institute of Neurological Disorders and Stroke (NINDS) of U.S.
“The results establish that PIEZO2 is a touch and proprioception gene in humans. Understanding their role in these senses can provide clues for a variety of neurological disorders,” he said.
cutting equipment uses techniques of genetic Bonnemann tip to help diagnose children around the world who have disorders that are difficult to characterize.
Working with Alexander T Chesler the National Center for NIH Complementary and Integrative Health (NCCIH), researchers found that patients who have mutations in the PIEZO2 gene that appear to block the normal production or activity of Piezo2 proteins in their cells.
Studies in mice suggest that Piezo2 is in the neurons that control touch and proprioception.
“Our results suggest that they are blind to the touch. Piezo2 version patient may not work, so your neurons can not detect touch gestures or limbs,” Chesler said.
Other tests suggest young patients lack the body awareness. Blindfold made them walking extremely difficult, making them stagger and stumble from side to side while assistants prevented them from falling.
They were also less sensitive to certain forms of contact. They could not feel the vibrations of a fork buzzing and control subjects could.
Nor could they tell the difference between one or two small clip ends pressed firmly against his palms. Brain scans of a patient showed no response when the palm of your hand rubbed.
The study was published in the New England Journal of Medicine.
Study: National Institutes of Health’s National Institute of Neurological Disorders and Stroke (NINDS), United States
RESEARCHERS: Carsten G Bonneman and equipment. National Institutes of Health’s National Institute of Neurological Disorders and Stroke (NINDS).
study published by :. England Journal of Medicine