Gene variants of Neanderthal associated with greater pain sensitivity; University College London

Researchers discovered that after previously being exposed to mustard oil, those with so-called Neanderthal variations in the sensory neuron-related gene SCN9A are more susceptible to pain from skin pricking. Three mutations in the SCN9A gene, referred to as M932L, V991L, and D1908G, have been found in sequenced Neanderthal genomes and there have been reports of increased pain sensitivity in people who possess all three variants. The precise sensory responses impacted by these variations were unknown, though, until this study.

The findings from a co-led study by the University College London state that the gene Neanderthal gene variants have a unique property of greater pain sensitivity. People who carry these gene variants are sensitive to specific types of pain.

The findings, published in Communications Biology, are the latest findings to show how past interbreeding with Neanderthals has influenced the genetics of modern humans.

UCL

Researchers discovered that after previously being exposed to mustard oil, those with so-called Neanderthal variations in the sensory neuron-related gene SCN9A are more susceptible to pain from skin pricking. Three mutations in the SCN9A gene, referred to as M932L, V991L, and D1908G, have been found in sequenced Neanderthal genomes and there have been reports of increased pain sensitivity in people who possess all three variants. The precise sensory responses impacted by these variations were unknown, though, until this study.

1,963 individuals from Colombia had their pain thresholds tested by an international team led by researchers from UCL, Aix-Marseille University, University of Toulouse, Open University, Fudan University, and Oxford University. The study was partially supported by Wellcome.

The sodium channel that the SCN9A gene encodes is highly expressed in sensory neurons that pick up signals from injured tissue. The D1908G gene variant was discovered by the researchers to be present in around 20% of the population’s chromosomes, and about 30% of the chromosomes containing this variant also had the M932L and V991L variants.

The three variations were linked, researchers discovered to a reduced pain threshold in reaction to skin pricking following previous exposure to mustard oil, but not in response to pressure or heat. Furthermore, compared to having only one variation, carrying all three was linked to increased pain sensitivity.

The hypothesis put forward by the scientists is that the Neanderthal variations might modify the threshold at which a nerve impulse is created, sensitizing sensory neurons. They hypothesize that due to random chance and population bottlenecks that happened during the first colonization of the Americas, the variations may be more prevalent among groups with larger shares of Native American ancestry. More study is required, according to experts, to evaluate if inheriting these variations and having increased pain sensitivity may have been helpful throughout human evolution, even though acute pain might limit behaviour and avoid future harm.

In the last 15 years, since the Neanderthal genome was first sequenced, we have been learning more and more about what we have inherited from them as a result of interbreeding tens of thousands of years ago. Pain sensitivity is an important survival trait that enables us to avoid painful things that could cause us serious harm. Our findings suggest that Neanderthals may have been more sensitive to certain types of pain, but further research is needed for us to understand why that is the case, and whether these specific genetic variants were evolutionarily advantageous.

Dr Kaustubh Adhikari (UCL Genetics, Evolution & Environment and The Open University)

Source: UCL News

Journal reference: Faux, P., Ding, L., Miguel, L., Camilo, J., Comini, M., Jaramillo, C., Arias, W., Hurtado, M., Villegas, V., Granja, V., Barquera, R., C., C., Hünemeier, T., Ramallo, V., Bortolini, M., Poletti, G., Gallo, C., Rothhammer, F., Rojas, W., . . . Bennett, D. L. (2023). Neanderthal introgression in SCN9A impacts mechanical pain sensitivity. Communications Biology, 6(1), 1-12. https://doi.org/10.1038/s42003-023-05286-z


Report: Achuth B S

Last Updated:


Read more

Editor's Desk

Next Post

PhD Positions in Stanford Biosciences Program - Stanford University

Mon Nov 6 , 2023
Stanford University, often simply referred to as Stanford, is a prestigious and well-known institution of higher education located in Stanford, California, USA. This university has open positions for its PhD program under the Biosciences program.
Genetics PhD Program (Stanford Biosciences Program) at the Department of Genetics of the Stanford University

Related Articles