Gene mutations protect against malaria disease

Discovered two gene mutations that protect against malaria

18/08/2012

Malaria causes about one million deaths per year, affecting mainly African children. 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, „protect against deadly processes of malaria“, so the current communication of the institute.

Like the researchers around Professor Rolf Horstmann of the BNI in the trade magazine „Nature“ According to their studies of African children, the two mutant genes have been found to provide protection against severe malaria in a variety of ways. „From the results, concrete studies on drug development can be derived“, so the hope of the scientists. Malaria is still one of the most feared infectious diseases worldwide. Especially for children, the disease, also known as malaria, represents a potentially life-threatening risk.

One million gene mutations examined
The fight against the tropical disease malaria has been extremely difficult. Therefore, the scientists of the Hamburg Bernhard Nocht Institute for Tropical Medicine, together with colleagues from the University of Kumasi (Ghana) and the University Hospitals Lübeck and Kiel, have gone in search of specific genes that can protect against deadly processes of malaria. In their study, they examined the genes of 1,325 Ghanaian infants with life-threatening outbreaks of malaria and 828 healthy children. Overall, in the genome-wide association study, almost „investigated one million mutations distributed throughout the genome, capturing virtually all human genes“, report Prof. Horstmann and colleagues. The results were reviewed in another 3,542 Ghanaian children.

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

Malaria often causes coma or death in children
Malaria is caused by unicellular parasites of the genus Plasmodium, which are usually transmitted via stabs of female Anopheles mosquitoes. In the human body, the unicellular pathogens can easily multiply and then cause symptoms such as high fever, chills and discomfort of the gastrointestinal tract (abdominal pain, diarrhea, nausea and vomiting) In severe disease, the patient may sometimes experience life-threatening anemia (anemia). Also disorders of the brain functions are observed in some patients. Especially in children, the tropical disease often leads to coma or death. (Fp)

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Picture: Peashooter