Rare mutation in Old Order Amish people linked to lower heart disease

A genetic mutation may cause lower levels of cholesterol and a blood clotting protein associated with heart disease, and the hope is to design drugs that have the same effect


2 December 2021

CT scan of a human heart


A rare genetic mutation first identified in Old Order Amish people has been shown to reduce the risk of heart disease by around 35 per cent.

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

In populations founded by a small number of people, such as the Old Order Amish, genetic mutations that are rare in the general population can be much more common simply by chance. Studying these populations can reveal what, if anything, these mutations do.

When Montasser’s team studied 7000 Old Order Amish people, the researchers found that a mutation in a gene called B4GALT1 was associated with lower levels of low-density lipoprotein (LDL) cholesterol. “That’s the bad cholesterol,” she says.

It was also associated with lower levels of fibrinogen, which helps blood clot. High levels of fibrinogen appear to increase the risk of heart disease. The mutation was present in 6 per cent of the people studied but is extremely rare in other populations.

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The team then looked at large databases such as the UK Biobank, finding that this gene variant is associated with a substantially reduced risk of coronary heart disease. To confirm the mutation is the cause of the lower LDL and fibrinogen levels, they also induced similar mutations in mice.

Put together, the evidence is robust, Montasser says. And so far there is no sign of any downside to this gene variant, she says. People with the mutation appear perfectly healthy. It might turn out to be an entirely beneficial gene variant that has not become common because its benefits manifest only late in life.

The team is now trying to work out exactly how the mutation lowers both LDL and fibrinogen so they can design drugs that have the same effect.

In theory, people’s LDL levels could also permanently lowered by using CRISPR gene editing to induce this mutation in cells in their livers. The team has already shown that this approach works in mice.

“It’s possible,” Montasser says. But there are many issues with this approach, and it may not be the best way to treat common diseases, she says.

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

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