Ccr5-δ32 mutation

Definition

The ccr5-δ32 mutation is a genetic variant that results in a deletion of 32 base pairs in the CCR5 gene, which encodes a protein on the surface of certain immune cells. This mutation has been associated with resistance to HIV infection, as the virus often uses the CCR5 protein to enter and infect immune cells. The presence of this mutation in certain populations highlights important aspects of genetic diversity and evolutionary adaptation in response to infectious diseases.

5 Must Know Facts For Your Next Test

1. The ccr5-δ32 mutation is particularly prevalent in European populations, with an estimated 10-15% of individuals carrying one copy of the mutation.
2. Individuals homozygous for the ccr5-δ32 mutation (having two copies) are highly resistant to HIV infection, making this mutation a significant factor in studies of HIV/AIDS epidemiology.
3. This genetic variant likely emerged in response to past infectious diseases, potentially providing an evolutionary advantage to carriers during historical pandemics like the bubonic plague.
4. Research suggests that the ccr5-δ32 mutation could affect other diseases as well, influencing susceptibility to conditions such as West Nile Virus and certain autoimmune disorders.
5. The ccr5-δ32 mutation demonstrates how human populations can exhibit varying levels of genetic diversity based on geographic regions and historical exposure to diseases.

Review Questions

• How does the ccr5-δ32 mutation provide resistance against HIV infection, and what role does it play in understanding genetic diversity?
  • The ccr5-δ32 mutation provides resistance against HIV infection by altering the CCR5 receptor, which the virus uses to enter immune cells. Individuals with this mutation either do not express the CCR5 protein or express it at reduced levels, making it difficult for HIV to infect them. This highlights genetic diversity in human populations, as varying frequencies of this mutation reflect historical interactions with infectious diseases and adaptations that have occurred over time.
• Discuss the evolutionary implications of the ccr5-δ32 mutation within different human populations and its connection to historical pandemics.
  • The ccr5-δ32 mutation illustrates how certain genetic traits can provide survival advantages during pandemics. Its higher prevalence in European populations may be linked to historical pandemics like the bubonic plague, where individuals carrying the mutation had improved survival rates. This suggests that natural selection played a significant role in shaping the distribution of this mutation across populations, leading to differences in genetic diversity and disease resistance based on geographic and historical contexts.
• Evaluate how the study of the ccr5-δ32 mutation can contribute to advancements in medical research and therapeutic approaches for viral infections.
  • Studying the ccr5-δ32 mutation offers valuable insights into potential therapeutic strategies against HIV and other viral infections. By understanding how this mutation confers resistance, researchers can explore gene editing techniques like CRISPR to replicate its effects in individuals at risk of infection. Furthermore, this research could lead to new vaccine developments or treatments that target similar pathways in the immune response, ultimately improving health outcomes for those affected by viral diseases.

Related terms

CCR5 receptor: A protein on the surface of immune cells that acts as a co-receptor for HIV, allowing the virus to enter these cells.

Genetic drift: A mechanism of evolution that refers to random changes in allele frequencies within a population, which can lead to variations over time.

Natural selection: The process by which organisms better adapted to their environment tend to survive and produce more offspring, influencing allele frequencies in a population.