Heart Disease: Rare mutations in people of the Amish old order may reduce the risk of heart disease

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Genetic mutations can lower levels of cholesterol and blood coagulation proteins associated with heart disease, and it is hoped that drugs with the same effect will be designed.


health


December 2, 2021

CT scan of the human heart

KH FUNG / SCIENCE PHOTO LIBRARY

Rare genetic mutations first identified in Old Order Amish people have been shown to reduce the risk of heart disease by about 35 percent.

I hope it will be possible to develop treatments that have the same effect, he says. Montasser At the University of Maryland. “The effect is really strong,” she says.

In groups founded by a small number of people, such as Old Order Amish, Genetic mutation Rarely in the general public, it can happen to become more common. By studying these populations, it is possible to clarify what these mutations do.

When Montasser’s team studied 7,000 Old-Order Amish people, researchers found that lower levels of mutations in a gene called B4GALT1 were found. Low Density Lipoprotein (LDL) Cholesterol.. “It’s bad cholesterol,” she says.

It was also associated with low levels of fibrinogen, which helps blood clots. High levels of fibrinogen appear to increase the risk of heart disease. Mutations were present in 6 percent of the people studied, but are very rare in other populations.

Next, the team looked at large databases such as UK Biobank and found that this gene mutation was associated with a significant reduction in the risk of coronary heart disease. To confirm that mutations are responsible for lower levels of LDL and fibrinogen, they induced similar mutations in mice.

In summary, the evidence is solid, says Montasser. And so far, she says, there are no signs of a downside to this genetic variant. People with mutations look perfectly healthy. It may turn out to be a completely beneficial genetic variant, but its benefits have only appeared later in life and have not become commonplace.

The team is now trying to figure out exactly how mutations can reduce both LDL and fibrinogen and design drugs with the same effect.

Theoretically, people’s LDL levels are CRISPR gene editing It induces this mutation in liver cells. The team has already shown that this approach works with the mouse.

“It’s possible,” says Montasser. However, she says, this approach has many problems and may not be the best way to treat common illnesses.

Journal reference: Chemistry, DOI: 10.1126 / science.abe0348

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Heart Disease: Rare mutations in people of the Amish old order may reduce the risk of heart disease

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