Researchers identify second genetic mutation linked to HIV resistance

WASHINGTON, United States (AFP) – A rare genetic mutation causing a form of limb muscular dystrophy also protects from HIV infection, Spanish scientists said Thursday.

This breakthrough comes a decade after the American Timothy Brown, known as the "Berlin Patient", became the first HIV healed person after a bone marrow transplant from a donor with a mutation. CCR5 gene.

The newly discovered mutation concerns the Transportin 3 gene (TNPO3) and is much rarer.

He was identified several years ago among members of a Spanish family with 1F muscular dystrophy.

Doctors who study the family have learned that HIV researchers are interested in the same gene because it plays a role in transporting the virus to the inside of the cells.

They then contacted geneticists in Madrid, who took blood samples from these family members and infected the blood with HIV – revealing a pleasant surprise.

Lymphocytes – white blood cells that are an important part of the immune system – people with rare muscle disease were naturally resistant to HIV, he said.

"This helps us better understand the transport of the virus in the cell," said Jose Alcami, a virologist at the Carlos III Health Institute and co-author of an article published in the AFP. the American journal PLOS Pathogens on the subject.

HIV is one of the most studied viruses, he said, adding, however, that much remains to be learned, including why five percent of infected patients do not develop AIDS.

"There are very poorly understood mechanisms of infection resistance," he said.