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NIAID News Release

NIAID Scientists Discover HIV Disease-Slowing Mutation

September 23, 1998

A note from TheBody.com: Since this article was written, the HIV pandemic has changed, as has our understanding of HIV/AIDS and its treatment. As a result, parts of this article may be outdated. Please keep this in mind, and be sure to visit other parts of our site for more recent information!

A common genetic mutation significantly delays the progression of HIV disease, scientists at the National Institute of Allergy and Infectious Diseases (NIAID) have found.

Philip M. Murphy, M.D., and David H. McDermott, M.D., of NIAID's Laboratory of Host Defenses, led a research team that screened blood samples from HIV-infected individuals for mutations in the gene for CCR5, a key HIV co-receptor. The CCR5 gene encodes a protein on human immune cells that helps HIV enter and infect those cells. Recent studies have shown that individuals who produce mutant forms of CCR5 protein are more likely to resist HIV infection or have slower HIV disease progression than individuals who produce normal CCR5 protein.

This time, the researchers wanted to see if mutations in the promoter, a region of the CCR5 gene that regulates the quantity, rather than quality, of CCR5 protein, might also influence HIV disease progression. Their suspicions that such mutations would slow disease progression were confirmed. The scientists discovered that individuals with promoter mutations in both of the CCR5 genes they inherited developed AIDS almost four years later, on average, than HIV-infected individuals who lacked the mutation. Laboratory analyses showed that the mutant promoter was 45 percent less active, and thus less effective at promoting CCR5 protein production, than the normal promoter.

Approximately 20 percent of the HIV-infected individuals in the study possessed two copies of the mutant CCR5 promoter. Since the vast majority of these individuals were Caucasians, the researchers screened random blood samples from healthy donors to get an estimate of the promoter mutation's prevalence among the general population. They found two copies of the mutation in 32 percent of African Americans, 28 percent of Asians, 18 percent of Caucasians and 10 percent of Hispanics in the sample.

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"This is the first HIV disease-modifying genetic variant found in a regulatory region of the CCR5 gene," notes Dr. McDermott. "It is extremely common, has a broad racial distribution and exerts a strong protective effect against disease progression."

In addition to providing an important new piece to the puzzle of genetic protection against HIV disease, the finding could point to new opportunities in HIV treatment research.

"The information may have a therapeutic application if methods can be developed to block specific regulatory factors at this or other sites that affect CCR5 production."

A report of the study, titled "CCR5 promoter polymorphism affects HIV-1 disease progression," was published in the Sept. 12, 1998, issue of The Lancet


NIAID is a component of the National Institutes of Health (NIH). NIAID conducts and supports research to prevent, diagnose and treat illnesses such as HIV disease and other sexually transmitted diseases, tuberculosis, malaria, asthma and allergies. NIH is an agency of the U.S. Department of Health and Human Services.

Press releases, fact sheets and other NIAID-related materials are available on the Internet via the NIAID Web site at http://www.niaid.nih.gov.

A note from TheBody.com: Since this article was written, the HIV pandemic has changed, as has our understanding of HIV/AIDS and its treatment. As a result, parts of this article may be outdated. Please keep this in mind, and be sure to visit other parts of our site for more recent information!



  
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Gene Mutations & Disease Progression

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