Rare Disease Makes Man Immune to HIV: Limb-Girdle Muscular Dystrophy 1F-D2


Abrahán Guirao, a 36-year-old man from Castellón, belongs to a family of just over 100 people that has been transmitting from parents to children, over eight generations, a rare disease: Limb-girdle Muscular Dystrophy 1F-D2. “When I found out that my rare disease made me immune to HIV, relatives whose existence I didn’t know began to contact me,” he explains.

In fact, some cases have been described in Italy that come from Spanish migrants who settled there. This is what the head of the AIDS Immunopathology Unit of the National Microbiology Center of the Carlos III Health Institute, José Alcamí, calls ‘family pedigree’.

Since he was a child, Abraham knew that he had the same disease that killed his grandfather and father, but he did not know its name. “He increasingly appears at younger ages. In my father’s case, it was detected in military service. “On the other hand, I manifested the first symptoms in childhood,” he says in an interview with Servimedia.

It is a rare disease that is characterized by “a muscular degenerative process” that leads to the wheelchair, and in the end, as it affects the internal organs, to death, according to immunologist José Alcamí.


This researcher knows closely the case of Abraham, one of the 100 people who have limb-girdle muscular dystrophy around the world, 50 of them in Spain, “whose genetic defect makes them weak for one disease, but strong against another, which It’s AIDS.”

The answer is found in the mutation of a gene called ‘Transportin 3’. “This gene is like a molecular bus that transports proteins from the periphery of the cell to the nucleus,” says Alcamí. It turns out that the AIDS virus also needs to get on ‘that bus’ to infect the cells, but in these patients, since they are altered, “it is impossible for them.”

At that time, people with limb-girdle muscular dystrophy, altruistically, gave us a blood sample that we tried to infect with the AIDS virus in the laboratory,” the expert explains to Servimedia.

The result was “surprising”, since “more than 90% of the samples were highly resistant to infection”. These patients became “the gateway” to a possible cure for HIV, as it was demonstrated that “they are immune to the virus.”

Paradoxically, the genetic error of a disease is a success in the race towards a cure for AIDS. But we must not lose sight of the fact that limb-girdle muscular dystrophy “generally and progressively damages the muscles of the shoulders and hips,” says Dr. Alcamí. “Over time, it becomes very disabling because it affects all the muscles and can lead to death due to respiratory distress.”

Abraham has been using a wheelchair since he turned 24 and recognizes that, in his case, the dystrophy “progresses quickly.” “My father died when he was 50, but he could walk. On the other hand, I can no longer comb my hair, at night I need a device to breathe and I get tired if I talk for a long time,” he explains.

Despite this, this Valencian lives his life in a “quite positive” way and with a sense of humor. “I’m not traumatic about being in a wheelchair, but I don’t want to die,” he states forcefully. Although he is aware that his life expectancy is around forty.


In this effort to find a treatment for his disease, Guirao decided to “gather all the members of the limb-girdle muscular dystrophy family” and found the Conquistando Escalones association. As president of this entity, he recognizes that they live “with a noose around their neck” to raise the 100,000 euros that each clinical trial costs because “if we don’t raise it, the research stops.”

The head of the AIDS Immunopathology Unit of the Carlos III Health Institute, José Alcamí, insists that we must continue researching rare diseases, “even if it affects only 50 people in the world.” “These people are giving us very important clues to find new treatments against the AIDS virus,” he says.

For this reason, on a day as important as World AIDS Day, Abraham asks institutions to adopt “a change of outlook”, to not see us as “poor sick people”, but “as an opportunity to cure millions of people”. ”.

Remember that the help of everyone, companies, individuals, is essential “to continue with the research” and in this way “continue conquering steps.” “In this way we are getting closer to the goal of a cure for our disease and for the millions of people with AIDS,” says the president of the association.

Likewise, he emphasizes that it should be a way to “promote the Spain brand and go down in history”, since it was a team of Spanish researchers that discovered the link between this genetic mutation and immunity against AIDS.

The immunologist José Alcamí, a member of this group of scientists, assures that the discovery demonstrates that “in science the borders are erased, they blur,” and it is right at that border, between virology and rare diseases, or between cancer and immunology, where “the great, most original progress” is taking place.

In fact, this is the second genetic defect known to protect against the virus. “The first was found in the CCR5 virus entry receptor gene and is present in 1% of the world population,” says Alcamí.

Recently, another example of a genetic alteration has been discovered, a rare and deadly disorder known as Mogs-CDG that does not immunize, but makes the AIDS virus less aggressive. Thus, it is clear that in science ‘a genetic error’ can be a ‘success’ in the approach to AIDS.

(SERVIMEDIA)01-DIC-2023 10:06 (GMT +1)AOA/pai

© SERVIMEDIA. This information is property of Servimedia. It can only be disseminated by the clients of this news agency citing Servimedia as the author or source. All rights reserved. Distribution and public communication by third parties through any means or medium is prohibited.

2023-12-01 09:06:00
#people #world #ultrarare #disease #key #AIDS #vaccine #Vanguardia

Leave a Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.