There is a genetic mutation that is capable of protecting against HIV infection, but that at the same time causes a rare muscle disease in those who have it, reported a research team from the Carlos III Health Institute (ISCIII), in Madrid, Spain.
As stated in a study published in the scientific journal Frontiers in Cell and Development Biology, there is a second genetic defect found so far that protects those who have it against HIV infection. The first genetic mutation to be discovered in a certain population “resistant” to HIV was the absence of the CCR5 receptor, which is found on the surface of cells and functions as an “anchor” for the virus.
In this case, the Spanish researchers focused on the mutation of the transportin 3 gene, which is a protein that is involved in transporting the virus to the nucleus of infected cells. The absence of transportin 3 is associated with protection against HIV infection, but it is also the cause of a rare muscle disease called limb-girdle muscular dystrophy type D2 (LGMDD2).
LGMDD2 is a specific type of a broader class, simply called limb-girdle muscular dystrophy, but it is so rare that it affects only about 100 patients in the world, most of them in Spain.
A new way
The research team, which described this mutation for the first time 3 years ago, considered that their finding opens the possibility of exploring new treatments with different mechanisms of action and objectives, not only as a treatment for the rare disease, but also against the disease itself. HIV.
In addition, this recent study not only describes the mechanisms by which the mutation causes muscle atrophy, but also identifies biomarkers, that is, substances that can be measured in the body and serve to monitor and predict its progression, which facilitates its treatment, reported the ISCIII website.
According to research, people with LGMDD2 have levels of lymphocytes (cells that are part of the body’s defense system) that indicate an inflammatory process, which affects various immune pathways.
The increase in the inflammatory level may be due to the damage caused by muscle disease and, in turn, may play a role in worsening it. According to the authors, the inflammatory state and, specifically, the activation of routes of other types of molecules of the immune system (called class I interferon proteins) forms a barrier that prevents HIV infection.
The inflammatory response, say the authors, is not characteristic of LGMDD2, but has been described in different muscular dystrophies and subtypes of LGMD. In this way, some treatments that are not specific for this disease have a therapeutic effect that reduces inflammation, and they are being tested in people suffering from various types of muscular dystrophies, including those of the LGMD type.
A scandal around the CCR5
At the end of 2018, a Chinese doctor named He Jiankui announced to the world that he had introduced a mutation in the CCR5 protein into two babies, as he wanted to prevent HIV infections in them. This after it had been widely proven that the CCR5 receptor mutation protects the approximately 10% of the European Caucasian population who are technically immune to HIV.
The scientific community was alarmed by this warning because, although there is a growing understanding of the human genetic code, it is not yet known what the implications of modifying it at will may be, and modifying a baby’s genome cannot be considered ethical.
While research on HIV treatments continues to advance, you can take care of yourself by wearing a condom. You can also prevent by taking a free HIV test and starting the indicated treatment, if the test is positive.
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