Spanish scientists discover rare gene linked to HIV resistance

Hand of researcher holds test tube with blood for HIV test.

In a discovery that could lead to new treatments for the HIV virus, Spanish scientists have reported a rare genetic mutation that causes a form of muscular dystrophy affecting the limbs, but also protects against HIV infection.

According to SowetanLive, researchers from the Institute of Health Carlos III in Madrid tested blood samples from 23 distantly-related donors who all had a particular form of muscular dystrophy. When scientists introduced HIV to the samples, however, the virus failed to replicate. 

According to the scientists, the immunity was due to the TNPO3 gene, which is needed in order for HIV to spread through the blood. 

“The test subjects all had a mutation of this gene, which was responsible for their form of muscular dystrophy, but also appears to have given them immunity from HIV”, José Alcami, a virologist who worked on the study said, adding that “this helps us to understand much better the transport of the virus in the cell.”

Alcami further revealed that, while HIV is among the most studied viruses, much remained to be learned, such as why 5% of patients who are infected do not develop AIDS. “There are mechanisms of resistance to infection that are very poorly understood,” he said.

The United Nations has set a 2030 deadline to end the AIDS epidemic by achieving zero new transmissions. It has also set a 90-90-90 target for 2020, by which 90 percent of all people living with HIV will know their status, 90 percent of all people diagnosed with HIV will receive antiretroviral therapy (ART), and 90 percent of all people on ART will not be able to transmit the virus.