The 7,000-year-old genetic mutation that protects against HIV

New research from the University of Copenhagen (Denmark) has revealed that between 18 and 25 percent of the Danish population carries a nearly 7,000-year-old genetic mutation that can make them resistant or even immune to HIV . Until now, it was unknown where, when, or why the mutation occurred. But thanks to advanced DNA technology, researchers have solved this genetic mystery, which was recently published in the journal Cell.

"It turns out that the variant arose in an individual who lived in an area near the Black Sea between 6,700 and 9,000 years ago," said Professor Simon Rasmussen of the Novo Nordisk Foundation Center for Basic Metabolic Research ( CBMR ) at the University of Copenhagen, corresponding author of a new study mapping the mutation.

"HIV is a relatively new disease—less than 100 years old—so it's almost a coincidence and very fascinating that a genetic variation that emerged thousands of years ago also protects against a modern virus like HIV," he added.

To determine where and when the mutation arose, the researchers first mapped it by analyzing the genetic material of 2,000 living people from around the world. They then developed a new AI-based method to identify the mutation in ancient DNA from old bones.

The researchers examined data from more than 900 skeletons dating from the early Stone Age to the Viking Age . "By looking at this broad dataset, we can pinpoint where and when the mutation arose. For a while, the mutation is completely absent, but then it suddenly appears and spreads incredibly rapidly. When we combine this with our knowledge of human migrations at the time, we can also pinpoint the region where the mutation originated," explained first author Kirstine Ravn , a senior research fellow at CBMR.

Thus, researchers were able to trace the mutation to a person from the Black Sea region 9,000 years ago, an individual from whom all carriers of the mutation are descended. Researchers believe the mutation arose and spread rapidly because it gave ancestors an advantage.

"People with this mutation survived better, likely because it dampened the immune system at a time when humans were exposed to new pathogens," explained Leonardo Cobuccio , co-author and postdoc at CBMR.

"The fascinating thing is that the variation alters 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. As humans transitioned from hunter-gatherers to closely living in agricultural societies, the pressure of infectious diseases increased, and a more balanced immune system may have been advantageous," the scientists conclude.

Fran Sánchez Becerril Head of Health and Food Section, Alimente www.elconfidencial.com Vía de las Dos Castillas, 33. Ática 7. 1° offices E, F, G and H. 28224 Pozuelo de Alarcón (Madrid)

New research from the University of Copenhagen (Denmark) has revealed that between 18 and 25 percent of the Danish population carries a nearly 7,000-year-old genetic mutation that can make them resistant or even immune to HIV . Until now, it was unknown where, when, or why the mutation occurred. But thanks to advanced DNA technology, researchers have solved this genetic mystery, which was recently published in the journal Cell.