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Researchers discover serious gene defect in Inuit populations

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A new strain discovered among Inuit breeders in Greenland, Canada and Alaska is likely to result in the diagnosis of all Inuit infants because otherwise they would be at increased risk of death from pediatric injection or mild infection.

The biological defects It was discovered in collaboration with researchers from the University of Aarhus and the University of Newcastle as well as pediatricians and immunologists in Denmark, Greenland, Alaska and Montreal in Canada.

For several weeks, doctors at Rigshospitalet have struggled to identify a 22-month-old Greenland baby boy. The boy showed signs of meningitis, and there was also suspected tuberculosis, which is common in Greenland. The treatment did not work as intended and the child’s condition was serious. Doctors therefore consulted Professor Trine Hyrup Mogensen at the Department of Pharmacology at the University of Aarhus in March 2021.

The Trine Hyrup Mogensen team has extensive expertise in research conducted by genetically modified organisms — a method by which maps of the human body as a whole — based on laboratory tests of blood or tissue.

The results of the child’s genetic study were astounding.

It must not cause delayed immunity

“IN all series of genes It was administered and this showed a defect in the IFNAR2 gene. At first we did not think it was a defect, because it is a new mutation that does not appear in the database as a disease, says Trine Hyrup Mogensen.

The researchers conducted experiments on the genetic material of patients and contracted herpesvirus and measles. It soon became apparent that patients’ cells were unable to upregulate any of the immune responses. Cells cannot produce interferon’s signal, which cells normally release at the same time diseases of the photo or video circulating rapidly to collect immune immune systems. Uncontrolled germs are found in diseased cells and only dead cells.

Trine Hyrup Mogensen’s team has been working with colleagues in Newcastle, who are also working with defects in the immune system.

British researchers focus on children from Alaska and Canada.

“Children die or become ill after exposure to COVID-19, influenza or two or three weeks after MMR. prevention. This is nothing new, but when we compare a series of moleculesthere is a game, “said Trine Hyrup Mogensen.

“New mutations are not classified as contagious, but it is clearly a biological defect,” she said.

The next step is to investigate how major damage has occurred on a regular basis, and this is possible in collaboration with the University of Copenhagen, which has a blood bank of 4600 Greenlanders. He explained that 1 in 1500 had inherited genetic defects from both parents so they were very susceptible to infections and live immunizations such as the MMR vaccine.

This has led to both research efforts and preventive measures to protect Inuit families from bacterial infections and bacterial infections.

“The survey means that an investigation should be carried out. At the same time, it is very important that this does not cast doubt on the communities affected. In Greenland, 80% of the MMR, but the figure reaches 40 percent % only. in excess remote locations“said Trine Hyrup Mogensen, who is in contact with the Chief Medical Officer in Greenland.

Death can be avoided

“The cause of the disease is so prevalent in the community that we can publish the study in the hope that it will make a difference for many families. Deaths can be avoided. This is a question that families have allow themselves to be vaccinated and examined.Children with the disease. 19 at the first level, “she said.

The researchers are currently seeking access to a heel blood test that all Greenland infants — such as Danish infants — drink when they are 2-3 days old.

“With the cooperation of pediatricians from Rigshospitalet, we are ready to conduct heel test samples as soon as we get the green light. If all goes well we will be given permission within six months and new internal guidelines will be prepared. one year, ”said Trine Hyrup Mogensen.

Inuit is the name given to a large number of Arctic people living in Greenland, Canada and Alaska. Trine Hyrup Mogensen does not know exactly why this disorder is more common here than in Europe or the United States.

“Most Inuit in Greenland originated in Northern Alaska more than a thousand years ago, and organisms from that time must have been selected in remote communities, perhaps because they have a protective effect and are useful in relation to other diseases. ” she said.

“It is possible that some of the children who died in unexplained cases in these areas died as a result of severe infection after a natural infection or an untreated vaccine. not because of defects. “

The study is published in Journal of Experimental Medicine.


Meningitis virus dies in newly detected immunosuppression


Learn more:
Christopher JA Duncan et al, Life-threatening diseases in a new form of autosomal IFNAR2 deficiency in the Arctic, Journal of Experimental Medicine (2022). DOI: 10.1084 / jem.20212427

Its formation
University of Aarhus

hintResearchers have found a significant defect in the number of Inuit (2022, April 26) recovered 26 April 2022 from https://medicalxpress.com/news/2022-04-gene-defect-inuit-populations.html

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