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New study crack the code of Gene’s protein structure linked to severe COVID

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The world’s largest study on the genetics of critical Covid-19, comprising over 57,000 patients, has revealed new information about some of the basic pathways underlying the severe form of the disease.

16 novel genetic variations associated with severe Covid-19 have been discovered, including those affecting blood clotting, immunological response, and inflammation intensity.

The genomes of 7,491 patients from 224 intensive care units in the UK were sequenced by researchers from the GenOMICC consortium.

Their DNA was compared to that of 48,400 individuals who did not have Covid-19, as well as participants in Genomics England’s 100,000 Genomes Project and 1,630 people who had moderate Covid.

The team was able to develop an accurate map and uncover genetic variation associated with Covid-19 severity by determining the complete genome sequence of all patients in the trial. When comparing the DNA of the ICU patients to the DNA of the other groups, the researchers discovered significant changes in 16 genes.

They also verified the involvement of seven other genetic variants previously linked to severe Covid-19 and found by the same team in previous investigations.

The researchers discovered that a single gene mutation disrupting interferon alpha-10, a crucial messenger molecule in immune system signaling, was enough to increase a patient’s risk of severe disease.

This emphasizes the gene’s importance in the immune system and implies that treating patients with interferon – proteins released by immune cells to defend against viruses – could aid disease management in the early stages.

Variations in genes that govern the levels of Factor 8, a key component of blood clotting, were similarly linked to serious illness in Covid-19, according to the study.

This could explain some of the clotting problems reported in Covid-19 patients with severe instances. The most frequent type of haemophilia is caused by the factor 8 gene.

“This gives us a deep understanding of the process of disease and is a big step forward in finding more effective treatments,” says professor Kenneth Baillie.

“It is now true to say that we understand the mechanisms of Covid better than the other syndromes we treat in intensive care in normal times – sepsis, flu, and other forms of critical illness. Covid-19 is showing us the way to tackle those problems in the future.”

“We’ve discovered novel gene variants that predispose people to severe illness – which now offer a route to new tests and treatments, to help protect the public and the NHS from this virus,” adds professor Sir Mark Caulfield.

Source: 10.1038/s41586-022-04576-6

Image Credit: Getty

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