Detecting a second gene mutation linked to resistance to HIV

American patient Timothy Brown became the first person to be cured of HIV infection through a donor's spinal cord transplant with a variant of the CCR5 gene.

Scientists in Spain on August 29 reported the discovery of a rare gene mutation that causes a form of muscular dystrophy that affects the limbs but also helps the human body against the infection of the HIV virus.

The breakthrough was announced a decade after American patient Timothy Brown, known as the "Berlin Patient", became the first person to be cured of HIV infection by a donor's spinal cord transplant. There is a variation of CCR5 gene.

Picture 1 of Detecting a second gene mutation linked to resistance to HIV
A relatively rare gene mutation helps the human body fight HIV infection.(Source: sciencedirect.com).

The newly discovered gene mutation is associated with the transporter gene 3 (TNPO3) and is a very rare variant.

This genetic variation was discovered several years ago in members of a family living in Spain with type 1F muscular dystrophy.

The family researchers are aware that HIV researchers are interested in the aforementioned gene variant because it plays an important role in transporting viruses inside cells.

So they contacted geneticists in Madrid to take blood samples from the family members and inject HIV into it. The results are astounding: the white blood cells - which play an important role in the immune system - of people with this rare muscle disease are naturally resistant to HIV.

Jose Alcami, a viral expert at Carlos III Medical Research Institute and co-authored a research paper published in the US PLOS Pathogens magazine about this, saying: "The findings help us understand. better understanding of virus transport in cells ".

According to expert Alcami, HIV is one of the most studied viruses, but so far there is much unexplained about this virus, such as why 5% of HIV-infected patients do not develop AIDS.

Alcami said: "There are mechanisms to fight infection that we know very little about."