Genetic mutations cause serious infections in Inuit, studies have shown

It all started when a 20-month-old Inuk child arrived from Greenland at a hospital in Copenhagen, Denmark, Dr. Trin Mogensen recalls.

According to a professor of infectious disease immunology and medicine at Arhas University on the east coast of the country, doctors have not been able to determine what went wrong. They then approached the young patient for genomic sequencing.

Dr. Mogensen’s work then reveals a mutation in the IFNAR2 gene.

It can be a very important molecule for immune cells to protect themselves against the virus.

The young patient’s cells are infected by the measles virus and Other viruses, They found that these had multiplied strongly and that the host cells had died. This means that something has prevented them from defending themselves against aggression.

Dr. Trin Mogensen, one of the authors of the study, believes that screening children is the key to identifying genetic mutations and sewing treatments.

Photo: Jan Jays / Arhas University

The doctor’s team further learned that the baby had received the measles, rubella and mumps vaccine two or three weeks ago.

He contacted the doctors NewcastleIn England, they realized that they had found similar mutations in patients.

We realized that this is quite common in Canada’s Inuit, Alaska and Greenland. The similarity between these patients is that they cannot defend themselves very well against viral infections and live vaccines, where the virus is still present, but weak.

The peer-reviewed study was published Journal of Experimental Medicine Of April 2022. It is based on 5,000 sick samples from five sick patients from Greenland, Canada and Alaska, and 5,000 blood samples from other children in Nunavic and Greenland.

With this data, researchers were able to determine that inconsistencies affected one in 1,500 people.

For a long time, there could be dead babies and we don’t know why, and this could be due to this mutation. A

A quote from Co-author of the study and immunology and infectious disease specialist.

An inconsistency that will protect you from something else?

Dr. Guy Raulu, now director of The Neuro, the Montreal Neurological Institute-Hospital, who participated in the research from afar, shared information he collected with Nunavi during his career.

These geneticists have also extensively studied the Inuit population and found that these populations were more likely to have aneurysms. Searching the question, he and his team found that there was also genetic variation.

We found a variant of a gene that seemed to be much more common, significantly, those who had aneurysms in Inuit, so we think we found a gene that predicted aneurysms in that population.Dr. Guy Rouleau explained.

The director of The Neuro, Guy Raulu, in a laboratory.

The director of The Neuro, Dr. Guy Raulu, conducted a variant study that predicted the development of aneurysms in Nunavic Inuit.

Photo: Canadian Press / Paul Chiasson

The study also allowed his team to determine that Nunavic’s Inuit was closer to Inuit in Greenland than other Inuit and that the population was homogeneous, since it was slightly mixed with other populations.

We have been able to identify the richest forms of this population and we think that they may be useful to this population to keep their environment healthy.

Scientists from both Dr. Ruleou and Dr. Mogensen speculate that these variations, these genetic abnormalities, may actually be due to a cause.

Often, when you have so many frequencies with a mutation, there is an advantage to having it. It is possible that it has a positive effect on other diseases, we do not know at allDr. Trin Mogensen says.

Gather more information

Although the question remains unanswered, researchers know that much more research will be needed to make such a discovery.

Dr. Michael Patterson, Chief Medical Officer of Health at Nunavut, who judged the study Worrying. He wants to get more information.

The study itself does not provide sufficient information to determine the frequency of infections in Inuit or the general population. A

A quote from Dr. Michael Patterson, Nunavut Chief Medical Officer of Health

He added that more needs to be done to determine how this genetic defect could lead to more serious complications than what is seen in the general population.

There is still a lot of work to be doneShe believes.

Nunavut's Chief Medical Officer of Health Dr. Michael Patterson at a press conference.

Dr. Michael Patterson, Nunavut’s chief medical officer of health, believes the study is worrying, and more research is needed.

Photo: CBC / Mike Zimmer

The Nunavic Regional Board of Health and Social Services also criticized the findings.

In an email, a spokesman recalled that the study involved five sick children, two of whom were from Nunavic.

This very small number does not allow us to conclude that this is a significant problem at the moment. Also, even if there is a temporary link between vaccination and serious illness, it does not prove that one is the cause of the other.Is it written?

Large size test for reaction resistance

The last thing doctors want is for the vaccine to trigger anxiety. To avoid this reaction, Dr. Mogensen thinks it is important to check at birth all babies to see if they carry a genetic abnormality.

If it does, then, according to him, it is not to administer a live attenuated virus vaccine, but rather a vaccine such as Messenger RNA A that does not contain a small amount of the virus.

We have effective treatment if we know that the cause is vaccine. If we know what it is, we can treat it very quickly and get a good result. A

A quote from Co-author of the study and immunology and infectious disease specialist.
Representation of infected cells through a microscope.

Rubella infection in the patient’s cells. By infecting the cells with certain viruses, the researchers realized that they were unable to defend themselves and that they were dead.

Photo: Courtesy of Trine Mogensen

He believes that in Greenland, such screening is possible, even in small, remote communities, because most deliveries take place in hospitals. Dr. Patterson agrees with Nunavut.

To keep up the momentum, Dr. Trin Mogensen feels that more people carrying mutations in the Inuit population need to be identified, especially by scratching the shores of the Greenland sample to verify the frequency of inconsistencies. He further added that it would be relevant to study whether mutations occur elsewhere in the world and to study the rare infections associated with them.

The task promises to be difficult, because, as Dr. Guy Raulu reminds us, All populations in the world are more likely to have certain diseases.

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