Ancient mutations from 7,000 years ago came from millions of HIV

According to a pioneering study by the University of Copenhagen, this is a significant genetic mutation in nearly 7,000 years that dates back to nearly 7,000 years of HIV infection. This discovery connects ancient human history with modern medicine to change our understanding of immunity and disease resistance.

Stop widespread mutations in HIV

The genetic variant is known as CCR5DELTA32 and is now carried by 10-16% of Nordics. In Denmark, the frequency rises even higher – with this protective mutation between 18-25% of the population.

When present in two copies (one from each parent), the 32-base pair deletion in the CCR5 gene makes people almost immune to HIV infection. This mutation is crucial for the development of modern HIV treatments, including gene therapies and drugs targeting CCR5 receptors.

But why can mutations that protect modern viruses are so common? This problem has plagued scientists for decades.

How do researchers track its origins?

Using innovative AI-based approaches developed specifically for the project, the researchers analyzed DNA from more than 900 ancient bones from the early Stone Age to the Viking Age. They combine it with genetic data from the 2,000 people who live today.

“It turns out that this variant is in a person who lives in a region 6,700 to 9,000 years ago,” explained Professor Simon Rasmussen of the University of Copenhagen, who was author of the study published in the Cell.

Researchers have found strong evidence that this mutation not only emerged randomly—in the Neolithic and late Bronze Ages, natural selection positive preferences helped to spread rapidly throughout Europe.

From ancient advantages to modern protection

What made this mutation beneficial for thousands of years before the advent of HIV? The answer lies in the ever-changing lifestyles of our ancestors.

“People with this mutation are better at survival, probably because it suppresses the immune system during periods of exposure to new pathogens,” explained Leonardo Cobuccio, author and postdoctoral fellow at the University of Copenhagen.

First author Kirstine Ravn and Cobuccio detailed: “It’s fascinating that this change destroys the immune gene. It sounds negative, but it can be beneficial. But it can be beneficial. An overly aggressive immune system can be fatal and can fatally think of allergic reactions or severe viral infections, such as causing damage to the immune system, causing damage to the patient, causing damage to the patient.”

As early humans transitioned from hunter-gatherers’ lifestyle to living intimately in agricultural communities, they faced new infectious diseases. Under these conditions, a more balanced immune response like that provided by a CCR5DELTA32 mutation becomes favorable.

Beyond HIV: The wider impact of mutations

This study shows that the CCR5DELTA32 mutation not only affects HIV resistance. Deletion is part of a larger genetic pattern, involving 84 variants that may affect multiple aspects of health and disease susceptibility.

Researchers found associations with a variety of medical conditions, including:

• Autoimmune and inflammatory diseases
• Cardiovascular disease
• Neurodegenerative diseases
• Certain types of cancer
• COVID-19 infection results

This complex relationship between mutations and different health conditions highlights the subtle effects of genetic mutations in our immune system.

“His virus is a relatively new disease – less than 100 years old, so it’s almost coincidental and fascinating, and genetic mutations caused thousands of years ago can also prevent modern viruses like HIV,” Professor Rasmussen noted.

Impact on modern medicine

The discovery is of great significance to personalized medicine and drug development. Understanding the broader haplotypes associated with CCR5DELTA32 can help researchers develop better target therapies for a variety of diseases.

The study also proposes important considerations for gene editing methods designed to mimic CCR5DELTA32 deletion to confer immunity to HIV. The researchers stressed that the effects of mutations must be considered in their complete genetic environment, as they are part of a complex haplotype that affects multiple systems in the body.

As we continue to unleash secrets of the inherited past, this study shows that ancient adaptation to long-standing challenges can unexpectedly provide protection against modern threats, a notable example of how our evolutionary history shapes today’s health.