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Gene mutations protect against malaria disease

Gene mutations protect against malaria disease

Two gene mutations discovered that protect against malaria

Malaria causes around a million deaths a year, with African children particularly affected. German scientists from the Bernhard Nocht Institute for Tropical Medicine (BNI) have now discovered two gene mutations in a so-called genome-wide association study, "which protect against the lethal course of malaria," according to the institute's current announcement.

As the researchers led by Professor Rolf Horstmann from BNI in the journal "Nature" report, their studies in African children have shown that the two mutated genes protect against serious malaria diseases in different ways. "The results can be used to derive specific studies on drug development," the scientists hope. Malaria is still one of the most feared infectious diseases worldwide. The disease, also known as swamp fever, is a potentially life-threatening risk, especially for children.

A million gene mutations examined The fight against the tropical disease malaria has so far been extremely difficult. That is why the scientists at the Bernhard Nocht Institute for Tropical Medicine in Hamburg, together with colleagues from the University of Kumasi (Ghana) and the University Hospitals of Lübeck and Kiel, went on a search for special genes that can protect against the deadly course of malaria. As part of their study, they examined the genes of 1,325 Ghanaian infants with life-threatening courses of malaria and 828 healthy children. Overall, the genome-wide association study examined "almost a million mutations that are distributed across the entire genome and thus cover practically all human genes," report Prof. Horstmann and colleagues. They checked the results on a further 3,542 Ghanaian children.

Two gene variants protect against severe malaria courses The German-African research team comes to the conclusion that two gene mutations can protect against severe courses of malaria. One of the genes “the calcium concentration in red blood cells, the cells in which malaria parasites multiply,” the BNI said. As Prof. Horstmann explained, it was already known from previous studies "that the concentration of calcium is important for the survival of the parasites." The second gene variant supports the sealing of vessel walls, which are known to be damaged by life-threatening malaria, the researchers report. Their studies also confirmed the previously known protection in people with so-called sickle cell disease (sickle cell anemia) and in people with blood group 0, the scientists report in the article "Genome-wide association study shows two new resistance loci for severe malaria". In view of the two mutations discovered, the researchers hope for new approaches to combating the dangerous tropical disease. Further studies are now to clarify how the gene mutations influence the activity of the proteins.

Malaria for children often to coma or death
Malaria is caused by single-celled parasites from the genus Plasmodium, which are usually transmitted via bites of the female Anopheles mosquito. The unicellular pathogens can multiply easily in the human body and subsequently cause symptoms such as high fever, chills and complaints of the gastrointestinal tract (abdominal pain, diarrhea, nausea and vomiting). If the course of the disease is severe, the patient may experience life-threatening anemia (anemia). Brain dysfunction is also observed in some patients. Tropical diseases often lead to coma or death, especially in children. (fp)

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Video: Protection against malaria (January 2021).