that’s BAD, a gene you have too

Scientists have just discovered a new blood type, an unexpected novelty. For more than 50 years, researchers have tried to solve an insurmountable mystery and now, thanks to advances in genetics, they have finally achieved it. A finding that is important to science and that can improve the way we administer blood transfusionsin addition, it will allow us to better understand some diseases. In this article, we explain everything you need to know about this discovery, from its origins to what it means for the future of medicine.

An article titled “Deletions in the MAL gene lead to loss of the Mal protein defining the rare inherited phenotype of AnWj negative blood group” reveals the solution to the questions raised. It was written by Louise A. Tilley, Vanja Karamatic Crew, Tosti J. Mankelow and a team of researchers from the International Blood Group Reference Laboratory and the University of Bristol and other institutions. This study solves a genetic mystery of more than 50 years and identifies how deletions in the MAL gene lead to the absence of the AnWj antigen in certain individuals, defining a new blood group system.

What are blood types?

Before diving into the new discovery, let’s recall what blood types are. Imagine that our red blood cells have few labels. These markers on the surface of red blood cells, called antigens, act like fingerprints, unique to each person. Blood groups are classified according to the presence or absence of these antigens. The best known are those of the ABO system (A, B, AB and O) and the Rh factor, but there are many more types. There are actually 40 recognized blood systems. Knowing what blood type we have is very important, especially when we need a transfusion. If we receive blood with labels other than our own, our body can react badly and cause us serious illness. Or even lead us to death.

The mystery of the AnWj group

Since its discovery in 1972AnWj’s blood type was a mystery. Although almost everyone (99.9 percent of people) has it, scientists have never fully understood why. Sometimes this blood group disappeared for a while, but in some people it was completely absent. For many years, scientists have tried to find the gene that causes it, but have been unsuccessful.

This year, scientists from the University of Bristol solved a decades-old mystery. Using new technologies, they found that people who do not have the AnWj antigen They have a “flaw” in a gene called MAL. This gene makes an important protein in the blood, and it is this protein that carries the AnWj antigen.

The MAL gene makes a protein called Mal. This protein is very important to our cells because it helps them function properly. Mal protein is found in many parts of the body such as skin and blood.

The researchers found that individuals with the AnWj negative phenotype are missing a specific part of the MAL gene, specifically exons 3 and 4. This deletion prevents the synthesis of the Mal protein in red blood cells, which in turn prevents the expression of the MAL gene. AnWj on the cell surface.

María Dolores Perez Caballero

Better understanding of some diseases

The interesting thing is that the AnWj antigen appears to be related to some disease-causing bacteria. For example, it is assumed that this antigen helps the bacteria so-called Haemophilus influenzae stick to our red blood cells and cause infections like pneumonia. Also the MAL protein, which we already know is related to the AnWj antigen serves as a gateway for another bacterial toxin (Clostridium perfringens), which can destroy our red blood cells. This means that people who do not have the AnWj antigen could be less susceptible to some infections.”

The MAL gene is not only related to blood type, but may also be involved in other diseases. Although people without the AnWj antigen appear to be healthy, The MAL gene has been seen to be linked to diseases such as multiple sclerosis and some types of cancer. This suggests that the MAL protein could be important in preventing these diseases.

The discovery of the AnWj blood group system and its association with the MAL gene has profound implications for transfusion medicine. AnWj-negative women who lack the AnWj antigen may develop anti-AnWj antibodies after transfusions or during pregnancy, which can cause potentially serious hemolytic transfusion reactions. Thanks to the identification of the MAL gene, it is possible to carry out genetic tests to determine the AnWj phenotype of donors and recipients, thereby guaranteeing blood compatibility and preventing transfusion complications. Furthermore, this finding opens new doors for research in blood group immunology. This will allow a better understanding of the molecular mechanisms underlying the formation of antibodies and immunological reactions associated with transfusions. In the long term, these findings could lead to the development of new therapeutic strategies to prevent and treat transfusion complications.

Reference