An extremely rare genetic mutation, responsible for the onset of a muscular disease affecting a group of about 100 people worldwide, creates a natural immunity against the virus that causes AIDS.
The discovery was made by Spanish scientists, who hope that the research will be able to obtain new anti-HIV drugs.
A first mutation was already known to scientists: the one that was discovered after being transmitted to the famous “Berlin patient”, Timothy Brown, cured of HIV by a stem cell transplant containing a rare mutation of the CCR5 gene, which confers a natural immunity against this virus.
The new mutation targets another gene (Transportin-3 or TNPO3) and is much rarer: it was discovered several years ago in a family in Spain, whose members were affected by an ultra-rare muscular disease – Limb-girdle muscular dystrophy (LGMD).
Doctors noted that a number of researchers studying HIV were interested in separate studies on the same gene, as it plays a certain role in transporting the virus inside cells.
They got in contact with the geneticists in Madrid, who did a lab test and infected the blood taken from the members of the same Spanish family with the virus that causes AIDS.
The experiment gave them a big surprise: the lymphocytes of the patients suffering from that ultra-rare muscular disease were naturally resistant to HIV. The virus couldn’t penetrate inside them.
“This helps us to understand the transport of the virus in cells much better,” explained Jose Alcami, a virologist at the Carlos III Institute of Health in Madrid, who conducts this study. The results were published in the American journal – PLOS Pathogens.
HIV is a well-known virus, the Spanish researcher added, “but there are still many things we know less about. For example, we do not know why 5% of infected patients do not develop AIDS. There are mechanisms of resistance to the infection that we understand very little about.” he said.
The road is still very long before doctors can exploit this gap and produce a new drug. But the discovery of this natural resistance confirms that the TNPO3 gene may be considered another interesting research target, which deserves to be considered in stopping the spread of HIV.
