Updated:05/06/2022 02:41h
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Abraham Guirao belongs to a family of just over 100 people who suffers from a rare muscular dystrophy that is inherited from parents to children and progressively deteriorates muscle strength. This genetic curse accompanies the same family that for generations has been distributed throughout the Valencian Community, Andalusia, Catalonia and also through Friuli, a region in northern Italy, where some members of the family emigrated and carried the altered gene. . And all because of a gene, which acts like a kind of Dr. Jekyll and Mr. Hyde: on the one hand it causes a rare disease and on the other it makes them immune to the virus that causes AIDS.
How can we explain that the same gene is both good and bad?
The mutation of this gene makes those affected by this muscular dystrophy immune to HIV and makes us the gateway to a possible cure for this pandemic. In addition, given the rarity and complexity of our type of muscular dystrophy, the researchers say that finding a cure could help find a solution for those affected by many other similar diseases like ours.
In fact, we have just started a campaign, HIV also saves lives, together with the HIV association movement, to obtain funds for research to find a treatment for muscular dystrophy. The goal is to raise €25,000, although we would like to reach €100,000, thanks to which we could carry out a clinical trial with one of the most promising drugs that we are currently studying for dystrophy. Also, anything that works for dystrophy will also be tested in the treatment of HIV.
It is not often that the same line of research can help two diseases that are so different.
That’s how it is; In fact, researcher José Alcami from the Carlos III Health Institute (ISCIII) always tells the anecdote that he called the director of ISCIII a few years ago to inform him that a mutation had been found in a family with muscular dystrophy. This protein is the one that acts as transportation for a person to become infected with HIV. It is at that moment when he begins to collaborate with the other research institutes and verify in the laboratory that, indeed, we had not only resistance to HIV, but also an immunity of more than 90%. From then on, our work is to coordinate with all the research centers that we have in Spain, Hospital La Fe in Valencia and the University of Valencia, together with the ISCIII and other centers in Italy.
Does your involvement in research make up for the limited support that exists in the study of rare diseases?
In some way, all of us are involved. Since 2016, when we started financing and promoting research groups to work in the field of this disease, we have raised and paid more than half a million euros. And now, with the impulse of a movement much bigger than us, such as the HIV movement, we also hope to have more echo and more support.
How can you reverse a situation in which, ultimately, you are the affected ones who are financing the research?
In the end, it is as simple and as complicated at the same time as the fact that the State creates funds for this type of research because, currently, there is absolutely nothing, there is very little money, the support is minimal and even, due to the bureaucracy and, even with the money, it costs a lot to hire an investigator.
How does it all start?
Everything comes as a result of information in the media that said that a family from Castellón could have the cure for HIV. «I think it’s us“, I told myself. We got in touch with Juan Vílchez, head of the Neuromuscular Pathology and Ataxia Research Group of the IIS La Fe, who discovered that a mutation in the protein Transportin-3 acts as a natural defense mechanism against HIV. From there everything begins. There are cases of people in my family that I did not know and we got in touch and decided that, as there was interest from different research centers, create an association to finance the research. This is how Conquistando Escalones was born, an association that emerged not only to raise funds, but also to coordinate the different research groups. We began to speak with all the people involved to ask them what their needs were and to be able to collaborate financially to cover them. And we currently have a broad consortium of researchers who meet regularly.
Are they all from the same family?
Investigating it has been known that the origins of the disease are located in a page of Murcia [ Reyes del Amor Giménez, en 1876, fue la paciente cero de una extraña enfermedad genética que lleva transmitiéndose desde hace ocho generaciones]. There are cases spread throughout Spain and there are even two people affected in Italy. Thanks to the discovery of our gene as the cause of the disease and that, somehow, it is already in the catalog of rare diseases, cases have also been located in various parts of the world. There are very few who are not from our family. These cases located in Hungary, Sweden, Iran or the US carry a mutation, not exactly the same, but very similar.
How is it transmitted?
It is inherited from father to son and progressively robs muscle strength. No one knows quite how it will evolve. It is passed down from generation to generation, but not always. You can skip a generation. I have it, but my sister doesn’t. There are families in which all 5 children have it and in others only one has it. There is a lot of variability.
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