Showing posts with label proprioception. Show all posts
Showing posts with label proprioception. Show all posts

Sunday, September 25, 2016

Researchers discover gene behind 'sixth sense' in humans

Researchers have discovered that some people share an extremely rare genetic mutation that may explain a 'sixth sense' in humans which has been discovered as proprioception, or the body's awareness of where it is in space. Research from the article explains that bizarre sensations from a 9 year old and 19 year old girl included a soft brush that felt like prickly thorns and not being able to tell which direction body joints are moving without looking at them. Pediatric neurologist Carsten Bonnemann who specializes in diagnosing unknown genetic illnesses in young people noticed that the girls shared physical symptoms such as hips, fingers, and feet that bent in unusual directions as well as scoliosis. Bonnemann screened their genomes and found a common mutation in the PIEZO2 gene which is linked to the body's sense of touch and its ability to perform coordinated movements. The researchers performed tests in which when blindfolded, the two patients couldn't tell which direction their joints were moving while the researchers moved their joints.

Researchers then repeated the tests with the patients strapped into an MRI machine and found out that although healthy people show activation in the region of the brain linked to physical sensation, the activation was missing in the two girls' brains. After many tests, Bonnemann and the other researchers determined that the PIEZO2 gene is likely critical for proprioception and skin touch. One possibility that might relate to the patient's skeletal deformities is that the proteins controlled by the gene play a key role in development. Also, researchers determined that the different variations of the PIEZO2 gene might contribute to whether a person is coordinated or not. The 'sixth sense' found in some humans is still being researched but scientists now know that the rare mutation exists and that there are others out there who have this 'sense.'

After reading this article, I was really shocked to see that there are people out there that have genetic mutation. I've never experienced anything like the two girls in the study did and I couldn't imagine not being aware of my body's awareness of where it is in space. I also found it very interesting that there is only one gene that influences whether someone will have this 'sixth sense' or not. The article was interesting and provided a lot of detail, but I just had a hard time grasping the concept that this genetic mutation exists and some people have trouble feeling different things and not being aware of the movement of their joints in their body.

Image result for proprioception

Friday, March 14, 2014

Scientist Discover Gene Essential for Sensing Joint Position



Close your eyes... now touch your nose. This is a simple task that can be easily impaired. Proprioception is the detection of body position, a concept that does not cross the minds of many people, until it becomes faulty. Scientist at The Scripps Research Institute have discovered a gene and a type of nerve which is important to detect leg-joint angles. The team leader describes the finding as "cells which resemble human nerve cells that innervate joints".  The catch? They have only been located in the fruit fly! However; should this gene be found in humans it could lead to a greater understanding, as well as treatments, for those who suffer with faulty proprioception. A questions scientists have been asking themselves is how a neuron can specialize in sensing just one type of "membrane-distorting stimulus" -like an angle of a limb joint, and exclude other stimuli, like impact pressures.
When conducting this study scientist zeroed in on flies which struggled to walk and found a similar gene mutation in all of the flies. Called "stumble", it is the absence of the gene (stumble) which leads to the defective walking. Scientists are now working on learning more about stumble and looking to see if the human version of stumble works in a similar manner. The research team from The Scripps Research Institute was even able to restore normal walking ability to the flies with mutated genes!
Published in Science Daily
For additional knowledge about propriception the International Encyclopedia of Rehabilitation has great information