HIV: a protective mutation of 9,000 years old

Indeed, 18 to 25 % of the population is carrying a genetic mutation which can make it resistant, even immune to HIV. This knowledge is used to develop modern treatments against the virus. So far, it was unknown where, when and why this protective mutation had occurred.

HIV is a relatively recent disease

– old under 100 years old; It is therefore almost fortuitous and fascinating that a genetic variation that appeared thousands of years ago also protects against a modern virus like HIV. However, one of the main authors, Dr. Simon Rasmussen of the Center for Fundamental Metabolic Research (CBMR) of the University of Copenhagen, specifies: “It turns out that

The protective variant appeared between 6,700 and 9,000 years ago,

In an individual living in a region close to the Black Sea ”.

The study Use advanced DNA analysis technology in order to map the genetic equipment of 2,000 participants and then a new method based on artificial intelligence (AI) to identify the mutation in old DNA from old bones. In total, the team thus analyzed more than 900 skeletons dating from the beginning of the Stone Age in the Viking era. This analysis made it possible to determine where and when the mutation appeared:

  • During a period, the mutation is completely absent, then it suddenly appears and spreads at an incredible speed;
  • By combining this data with knowledge on human migration of the time, the origin of the transfer was located in a person from the Black Sea about 9,000 years ago;
  • From this origin, all the carriers of the mutation descend;
  • From there, the mutation spread quickly because it gave an advantage to our ancestors.

“The carriers of this mutation survived better, probably because it regulated their immune system at a time when humans were exposed to many new pathogens”.

What process? This variation disturbs an immune gene. This may seem negative at first, but is most likely beneficial. Because an overly aggressive immune system can be fatal. With the transition of humans’ lifestyles, who were hunter-gatherers and then developed agricultural and industrial societies, the pressure of infectious diseases has increased, and a better regulated immune system then was a survival advantage.

NB This study was supported by the Novo Nordisk Foundation at the University of Copenhagen.

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