A genetic mutation from the Black Sea region, dating back nearly 9,000 years, is linked to modern HIV treatments. A University of Copenhagen study reveals that 18-25% of Danes carry the CCR5Δ32 [CCR5 delta 32] mutation. This mutation provides some resistance to HIV infection.
The CCR5Δ32 [CCR5 delta 32] allele, a deletion in the CCR5 gene, impacts HIV immunity. The CCR5 gene encodes a receptor used by HIV to infect cells. The mutation truncates this receptor, hindering viral entry and replication.
Researchers at the Novo Nordisk Foundation Center for Basic Metabolic Research (CBMR) investigated the mutation's origins. They analyzed ancient DNA from over 900 skeletal remains. AI was used to analyze degraded genetic sequences.
The team traced the mutation to an individual near the Black Sea 6,700 to 9,000 years ago. This individual is believed to be the common ancestor of modern CCR5Δ32 [CCR5 delta 32] carriers. The study is titled "Tracing the evolutionary history of the CCR5delta32 deletion via ancient and modern genomes."
The mutation may have helped balance immune responses during the transition to agricultural societies. This modulation could have protected against hyperinflammation from novel pathogens. Early farming communities created environments ripe for infectious disease transmission.
The study, published in Cell on May 5, 2025, connects paleogenetics with modern medicine. Understanding CCR5Δ32 [CCR5 delta 32] aids biomedical research for HIV therapies. Gene-editing technologies might replicate the mutation's protective effects.
Professor Simon Rasmussen from CBMR noted the coincidence of an ancient variant protecting against a modern virus. The virus HIV only emerged within the last 100 years. The research highlights the nuanced role of immune receptors like CCR5.
The research was made possible through interdisciplinary collaboration. Vast ancient DNA datasets combined with AI algorithms enabled high-confidence tracking of mutation frequency changes. This work opens pathways for similar analyses on other immune-related mutations shaping human adaptation to infectious diseases.