A new ‘Pain Sensing’ gene discovered!

Researchers analysed the genetic make-up of 11 families across Europe and Asia affected by an inherited condition known as congenital insensitivity to pain (CIP). This enabled them to pinpoint the cause of the condition to variants of the gene PRDM12. Family members affected by CIP carried two copies of the variant; however, if they had only inherited one copy from their parents, they were unaffected.

PRDM12 had previously been implicated in the modification of chromatin, a small molecule that attaches to our DNA and acts like a switch to turn genes on and off (an effect known as epigenetics). The researchers showed that all the genetic variants of PRDM12 in the CIP patients blocked the gene's function.

The team looked at nerve biopsies taken from the patients to see what had gone wrong and found that particular pain-sensing neurons were absent. From these clinical features of the disease, the team predicted that there would be a block to the production of pain-sensing neurons during the development of the embryo - they confirmed this using a combination of studies in mouse and frog models, and in human induced pluripotent stem cells.

http://www.cam.ac.uk/

VIA Science Mission

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College is worth it if you have these six experiences

a professor who made them excited about learning professors who cared about them as a person a mentor who encouraged them to pursue their goals and dreams worked on a long-term project had a job or internship where they applied what they were learning were extremely involved in extra-curricular activities

Mahantesh Biradar

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