A new gene critical to the human body’s ability to produce pain-detecting neurons has been identified by a team of international researchers that was co-led by England’s University of Cambridge. The discovery, as reported in the journal “Nature Genetics,” may well have implications for future development of new approaches to pain relief.
Perception of pain is an evolutionarily-maintained detection mechanism which alerts organisms to dangers in their environment that may have the potential to cause tissue damage. However, a small percentage of individuals are born not being able to feel pain. This causes these individuals to receive frequent self-inflicted injuries which can often lead to a reduced lifespan.
Studies
Using a detailed genome-mapping technique two research teams collaborated to analyze the genetic composition of 11 different families across Asia and Europe who inherited a congenital insensitivity to pain, commonly referred to as CIP. This finding permitted the researchers to identify the cause of the ailment as being dependent on variations of a gene known as PRDM12. Researchers found that all those afflicted by CIP had two copies of the abnormal gene, but those who only inherited one copy of the PRDN12 gene from their parents were not affected.
Researchers examined nerve biopsies, taken from family members, to look at what went wrong, and discovered particular pain-sensing neurons were missing. From this finding the researchers predicted there would be a blocking of pain-sensing neuron production during the early stages of development of an embryo. Researchers then confirmed the prediction through a combination of studies in frogs, mice and human stem cells.
The PRDM12 gene had been previously implicated in the alteration of chromatin, a molecule that attaches to DNA and functions as a control to switch genes off and on, a procedure referred to as epigenetics. Researchers demonstrated that all the genetic variations of the PRDM12 gene in those patients with CIP had blocked the gene from functioning. As chromatin is markedly important during formation of some specialized cells, like neurons, this affords a likely explanation as to why pain-sensing neurons didn’t properly form in CIP patients.
Conclusion
Geoff Woods, professor at the University of Cambridge’s Institute for Medical Research, and one of the co-leaders of the study, explained that the body’s ability to sense pain is indispensable to self-preservation, but science understands much more about the presence of severe pain than about the lack of it. Professor Woods went on to say that understanding both conditions are proportionately important in developing new pain treatments, because if science can learn the mechanisms which regulate pain then there is the potential to learn how to control it.
The PRDM12 gene is only the fifth gene discovered to date to be related to lack of pain perception. However, two of the formerly-discovered four genes have led to significant advancements in drugs to alleviate pain and are currently in clinical trials.
The study’s original author, Dr. Ya-Chun Chen at the University of Cambridge, said researchers are highly hopeful that the newly discovered gene may become an excellent candidate for the development of new pain-killing medications, especially with the recent accomplishments of medications designed to target chromatin regulators. Chen also stated the potentially benefits for those with CIP could be lifesaving.
Studies
Using a detailed genome-mapping technique two research teams collaborated to analyze the genetic composition of 11 different families across Asia and Europe who inherited a congenital insensitivity to pain, commonly referred to as CIP. This finding permitted the researchers to identify the cause of the ailment as being dependent on variations of a gene known as PRDM12. Researchers found that all those afflicted by CIP had two copies of the abnormal gene, but those who only inherited one copy of the PRDN12 gene from their parents were not affected.
Researchers examined nerve biopsies, taken from family members, to look at what went wrong, and discovered particular pain-sensing neurons were missing. From this finding the researchers predicted there would be a blocking of pain-sensing neuron production during the early stages of development of an embryo. Researchers then confirmed the prediction through a combination of studies in frogs, mice and human stem cells.
The PRDM12 gene had been previously implicated in the alteration of chromatin, a molecule that attaches to DNA and functions as a control to switch genes off and on, a procedure referred to as epigenetics. Researchers demonstrated that all the genetic variations of the PRDM12 gene in those patients with CIP had blocked the gene from functioning. As chromatin is markedly important during formation of some specialized cells, like neurons, this affords a likely explanation as to why pain-sensing neurons didn’t properly form in CIP patients.
Conclusion
Geoff Woods, professor at the University of Cambridge’s Institute for Medical Research, and one of the co-leaders of the study, explained that the body’s ability to sense pain is indispensable to self-preservation, but science understands much more about the presence of severe pain than about the lack of it. Professor Woods went on to say that understanding both conditions are proportionately important in developing new pain treatments, because if science can learn the mechanisms which regulate pain then there is the potential to learn how to control it.
The PRDM12 gene is only the fifth gene discovered to date to be related to lack of pain perception. However, two of the formerly-discovered four genes have led to significant advancements in drugs to alleviate pain and are currently in clinical trials.
The study’s original author, Dr. Ya-Chun Chen at the University of Cambridge, said researchers are highly hopeful that the newly discovered gene may become an excellent candidate for the development of new pain-killing medications, especially with the recent accomplishments of medications designed to target chromatin regulators. Chen also stated the potentially benefits for those with CIP could be lifesaving.