Got To Go? Scientists Uncover A Gene That Helps Sense A Full Bladder

 

Research scientists at The Scripps Institute in La Jolla, CA, discovered the gene responsible for making us urinate! Sounds really gross, but have you ever wondered why you always have a powerful urge to urinate. The gene that is responsible is the PIEZO2, which is kind of funny because it has "pee" in it. This gene is located in sensory neurons as well as the urothelial cells that help coordinate urination (Nature). These two cell types all the brain to know when we need to pee. It makes sense why the urge is so powerful because urinating is essential to our health. We need to get rid of the waste in our body and holing it in can cause damage to our health. This gene allows us to stay healthy, by letting us know, kind of like an alarm clock, when we need to release our waste. The neurons and cells work together to form the urge. When we have to pee, our bladder expands and this is hen the PIEZO2 genes that encode the proteins that are activated. An experiment with mice showed that removing the gene cause the mice to have trouble urinating, in which they urinated at randoms times not in a controlled way. Without this gene, we might be peeing randomly which is not something you would ant to see in public. They are conducting more research for the future to gain a better understanding.

https://www.genengnews.com/news/got-to-go-scientists-uncover-a-gene-that-helps-sense-a-full-bladder/

https://neurosciencenews.com/urination-genetics-17187/

PIEZO2: The Spatial Awareness Gene

A lack of spatial awareness got you (falling) down? Don’t worry, a journal published in The New England Journal of Medicine may have found a genetic culprit. In a study of mechanosensation (the “sixth sense” as if is known to some), researchers came along two patients with a distinct phenotypic lack of this sensation. Further DNA sequence data unveiled both patients had a mutation on the gene PIEZO2.

The study tested each patient’s thresholds of several different sensations: vibration sensitivity, temperature change, tickle, and ability to walk blindfolded among a few others. In the PIEZO2 devient patients a shocking lack of response, inability to walk blindfolded, and “keep track” of their own limbs when moved by the researchers was observed, leading to the conclusion that the gene could very well control our “sixth sense.” Natural variations in each nonmutated PIEZO2 gene owners may vary in expression, as with any gene.

Some extra clinical investigation of the two individuals unveiled some early similarities in their poor spatial awareness: neither developed sufficient motor skills to walk unaided until about 6-7 years of age and both had early extreme scoliosis. Both shared a host of other skeletal deformities affecting their hips, fingers, and feet.

A screenshot of a video released from the study showing the effects of the affected phenotype. 

links:

http://www.popsci.com/your-sixth-sense-body-awareness-depends-on-this-gene?dom=currents&src=syn

http://www.nejm.org/doi/full/10.1056/NEJMoa1602812#t=article (and picure)

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.

Touch-Sensory Principle Protein Identified

The concept of touch and the mystery of how it is felt has always been a mystery in the scene of neuroscience. However, biologists at The Scripps Research Institute have identified a protein that brings about touch in mammals. Earlier in April 2014, TSRI was also the first to identify the dual-sensor system and nerve-touch sensation through relation to Merkel cells revealed by the supporting article. Last year, the same scientists discovered ion-channeled proteins Piezo1 and Piezo2 through studying its effects on mice. This year, they discover that only Piezo2 is the primary protein that when activated in Merkel cells, sends the feeling of touch through the nervous system. During the current study, they note that when Piezo2 protein is removed from newly bred mice (by deleting the gene!), all mice died at birth. However, when Piezo2 is removed during an adult stage of the mice's life, the mice is almost incapable of feeling light touches but still able to feel harsher pains through observation of reactions.

I found these articles interesting because I love any science that deals with the 5 senses because of the science involved that produce these sensations and now can come closer to understanding human existence. This neuroscience study included parts where scientists actually removed a whole protein gene from the mice which I found was interesting. The concept of touch can now be applied to how light and other sensations felt by touch can now be studied through these Piezo2 ion channels. I cannot wait for the next big discovery TSRI has to offer. 

Original: http://www.sciencedaily.com/releases/2014/12/141202161427.htm

Supporting: http://www.sciencedaily.com/releases/2014/04/140406162245.htm