Jan Bartek – AncientPages.com – A comprehensive DNA study has focused on an individual who lived thousands of years ago in the Black Sea region, revealing fascinating insights. This ancient person carried a genetic mutation that offered protection against a disease not present at the time but relevant to modern medical challenges.
Credit: Александр Свинарчук- CC BY-SA 4.0, Jbuket – CC BY-SA 3.0. Image compilation: AncientPages.com
This leads us to the central question of the research: What connects this ancient human to modern HIV medicine? Recent findings from the University of Copenhagen suggest a significant connection.
Between 18-25 percent of the Danish population possesses a genetic mutation that can confer resistance or even immunity to HIV. This discovery is instrumental in developing current treatments for the virus. Previously, the origins and reasons for this mutation were unknown, but with advanced DNA technology, researchers have unraveled this genetic enigma.
“It turns out that the variant arose in one individual who lived in an area near the Black Sea between 6,700 and 9,000 years ago,” says Professor Simon Rasmussen from the Novo Nordisk Foundation Center for Basic Metabolic Research (CBMR) at the University of Copenhagen, corresponding author of a new study mapping the mutation. He adds:
“HIV is a relatively new disease – less than 100 years old – so it’s almost coincidental and very fascinating that a genetic variation that arose thousands of years ago also protects against a modern virus like HIV.”
To pinpoint the origin and timing of the mutation, researchers initially mapped it by examining the genetic material of 2,000 individuals from around the globe. They subsequently devised an innovative AI-based technique to detect this mutation in ancient DNA extracted from old bones. The study involved analyzing data from more than 900 skeletons, spanning periods from the early Stone Age to the Viking Age.
“By looking at this large dataset, we can determine where and when the mutation arose. For a period, the mutation is completely absent, but then it suddenly appears and spreads incredibly quickly. When we combine this with our knowledge of human migration at the time, we can also pinpoint the region where the mutation originated,” explains first author Kirstine Ravn, senior researcher at CBMR.
Thus, the researchers successfully traced the mutation back to an individual from the Black Sea region approximately 9,000 years ago, identifying this person as the common ancestor of all carriers of this genetic variation. This raises an intriguing question: why do a significant number of Danes possess a genetic mutation that offers protection against a disease that was not present at that time? The researchers propose that this mutation proliferated quickly because it conferred a beneficial advantage to our ancestors.
“People with this mutation were better at surviving, likely because it dampened the immune system during a time when humans were exposed to new pathogens,” explains Leonardo Cobuccio, co-first author and postdoc at CBMR. He and Kirstine Ravn elaborate:
“What’s fascinating is that the variation disrupts an immune gene. It sounds negative, but it was likely beneficial. An overly aggressive immune system can be deadly – think of allergic reactions or severe cases of viral infections like COVID-19, where the immune system often causes the damage that kills patients.
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As humans transitioned from hunter-gatherers to living closely together in agricultural societies, the pressure from infectious diseases increased, and a more balanced immune system may have been advantageous.”
The study was published in the journal CELL
Written by Jan Bartek – AncientPages.com Staff Writer
