The discovery could be a trail for new anti-HIV drugs. An extremely rare genetic mutation, responsible for a muscular disease affecting a hundred people, creates a natural immunity against the virus of the
AIDS, reported Thursday Spanish researchers.
This very rare mutation concerns the Transportin-3 or TNPO3 gene. It was discovered years ago in the same Spanish family, suffering from an ultra-rare muscular disease, called muscular dystrophy type 1F belts.
Lymphocytes naturally resistant to HIV
Doctors found that HIV researchers were interested in the same gene separately because it plays a role in the transport of the virus inside the cells. So they contacted geneticists from Madrid, who had the idea of trying to infect, in the laboratory, the blood of members of this family with the AIDS virus. Surprise: The lymphocytes of those who had this ultra-rare muscle disease were naturally resistant to HIV. The virus could not get into it.
"This helps us to understand much better the transport of the virus in the cell," says José Alcami, the virologist at the Carlos III Health Institute in Madrid who conducted the research published in the American journal PLOS Pathogens. HIV is certainly the best known of all viruses, he says, "but there is still much that is not well known," he added.
A second mutation discovered
The road is still long to exploit this flaw to produce a new drug. But the discovery of this natural resistance confirms that the TNPO3 gene is an interesting target to block the road to the virus.
Until now, a first mutation was well known thanks to "Berlin patient" Timothy Brown. He has been cured of HIV by a stem cell transplant containing a rare mutation in the CCR5 gene, which also confers natural immunity against the virus.