CCR5delta32

CCR5delta32 is a specific genetic mutation that affects the CCR5 gene. This gene provides instructions for making a protein that acts as a receptor on the surface of certain white blood cells. This receptor plays a crucial role in the immune system, particularly in how certain types of white blood cells travel to sites of infection and inflammation.

The delta32 mutation involves a deletion of 32 base pairs within the CCR5 gene. Individuals who inherit two copies of this mutated gene (one from each parent) produce a non-functional CCR5 protein. This absence of functional CCR5 receptors on their cells makes it very difficult for certain viruses, most notably the human immunodeficiency virus (HIV), to enter and infect these cells. As a result, individuals homozygous for the CCR5delta32 mutation are highly resistant to infection by the most common strains of HIV.

The CCR5delta32 mutation is more prevalent in populations of European descent. Its discovery has been significant in understanding HIV pathogenesis and has also opened avenues for research into gene therapy as a potential treatment for HIV infection, aiming to confer similar resistance to affected individuals. While resistance to HIV is the most well-known consequence, the CCR5 receptor is involved in other immune responses, and the precise impact of the delta32 mutation on these broader functions is an ongoing area of scientific investigation.