• Treatment: An oncological drug could be key to treating HIV
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  • Survivors: The generation that has been living with the AIDS virus for 30 years

A rare disease that generally damages muscles hides a key against the AIDS virus . A team of Spanish researchers, led by the National Center for Microbiology of the Carlos III Health Institute (ISCIII), has discovered that the genetic mutation that produces a very rare muscular dystrophy also protects against HIV infection.

Worldwide there are about 100 patients diagnosed with a disease called myopathy of type 1 waist. Its evolution is very variable: some patients maintain a relatively good state of health and can walk; others end up in a wheelchair .

Until recently, there was only one family identified in Spain , "all cousins," as the patients themselves say. In fact, the cases that have been described in Italy come from Spanish migrants who settled there several generations ago.

All these patients have gone from having a disease that barely interested a few scientists to be able to affect hundreds of millions of people. And the connection between the two is a genetic mutation.

In 2013, researchers from the Valle de Hebron hospitals in Barcelona and La Fe de Valencia described the genetic alteration that caused the disease. The mutation occurred in the gene of transportin 3, an essential molecule for HIV infection to occur.

AIDS virus infecting a lymphocyte INSTITUTE PASTEUR

José Alcamí, head of the AIDS Immunopathology Unit at that center of the Carlos III Health Institute, then received the call from one of those doctors, Antoni Andreu: As an HIV expert, were you encouraged to investigate this newly discovered mutation? Alcamí picked up the glove. With their team they confirmed that it confers immunity against HIV. The finding, as well as the mechanism of action that explains it, are now described in a study in Plos Pathogens .

It is the second genetic defect that is known to protect against the virus. "The first one, described two decades ago, was found in the CCR5 virus receptor receptor gene and is present in 1% of the world's population, without it having been associated with any disease," says Alcamí. In fact, it is the mutation that was introduced in the controversial experiment that applied the CRISPR genetic cutter technique to Chinese babies.

If the CCR5 deficit prevents the virus from entering the cell, that of transportin 3 closes the passage to the nucleus. "Both proteins are the key to the doors that the AIDS virus needs to go through to reach its ultimate goal, which is the integration into our genes."

The finding of the mutation in CCR5 revealed a molecular target on which an anti-HIV drug was developed, the entry inhibitor Maraviroc. "With the mutation in the carrier we follow a similar philosophy: to understand well how it works to be able to design drugs that attack that target," Alcamí says.

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