It helps a person to feel their position in space
The study of an extremely rare genetic mutation has allowed scientists to better understand the nature of proprioception - a sensation that is sometimes informally called the "sixth sense." Proprioception is the ability of a person to feel the position of parts of his own body relative to each other in space. Research is likely to help figure out one reason why some people are more awkward than others.
A group of researchers led by Carsten Böhnemann, who works at one of the National Institutes of Health in the United States, found similar symptoms in a 9-year-old girl and a 19-year-old girl suffering from a disease unknown at that time. Both of them suffered from very significant problems with coordination of movements, their knees, joints of fingers and elbows were often in a strange position, it was difficult for them to walk and sometimes they did not feel the touch of foreign objects on their skin or felt it "wrong" - for example, soft grass perceived by them as thorns. Also, both patients suffered from scoliosis.
Experts suggested that the girls suffer from the same genetic mutation, and after a series of studies, they found it in a gene called PIEZO2, which had previously been linked to touch and coordination. At the same time, first of all, scientists were struck not so much by the rarity of the disease, which does not even have a name, but by the fact that in previously conducted experiments mice could not survive without the PIEZO2 gene. It was assumed that a person also could not be born with such a significant mutation.
Further research showed that the girls, most likely due to the extremely unusual variant of PIEZO2, were deprived of proprioception - muscle sense. Their sense of touch was also affected, while temperature sensitivity or sensitivity to pain remained unchanged. In all likelihood, the PIEZO2 mutation was indirectly associated with the not quite correct development of the skeleton of the girls - the inability to keep the body in the correct position over time led to the development of problems similar to scoliosis.
Experts have published their findings in the scientific journal The New England Journal of Medicine. In the future, they hope to get additional information about what role the PIEZO2 gene plays in the human body, and how significant the influence of certain of its "usual" variations is on whether a person will simply be clumsy.
Dmitry Erusalimsky