The study of rare genetic mutations has allowed scientists to better understand the nature of proprioception — the feeling, which is sometimes informally referred to as “the sixth sense”. Proprioception — ability to sense the position of parts of your own body relative to each other in space. Probably, the study will help determine one of the reasons why some people are more clumsy than others.
A group of researchers under the leadership of Carsten Benemann working in one of the National institutes of health in the US, found in 9-year-old girl and 19-year-old girl suffering from unknown at the time of the disease, similar symptoms. They both suffered from very significant problems with coordination of movements, their knees, finger joints and elbows were often in a strange position, it was difficult to walk and sometimes they do not feel the touch of foreign objects to his skin or felt his “wrong” — for example, soft grass is perceived as the spikes. Both patients also suffered from scoliosis.
Experts have suggested that girls suffer from the same genetic mutations, and after some research found it in a gene called PIEZO2, which had previously been linked with the sense of touch and coordination. While primarily scientists struck not so much by the rarity of the disease, not having even the names, as the fact that in previous experiments the mouse could not survive without the gene PIEZO2. It was assumed that people could be born with such a significant mutation.
Further research showed that girls, in all probability, because of the extremely unusual option PIEZO2 were deprived of proprioception — kinesthesia. Also suffered their touch, despite the fact that temperature sensitivity or sensitivity to pain remained unchanged. In all probability, a mutation in PIEZO2 was indirectly linked and not altogether proper development of the skeleton of the female inability to hold the body in the correct position over time led to the development of problems such as scoliosis.
The experts published their findings in the scientific journal the New England Journal of Medicine. In the future they hope to obtain additional information about the role the human body plays the gene PIEZO2, and how significant the influence of certain of his “usual” variations on whether a person is simply clumsy.