The hope is to design drugs that have the same effect as a genetic variation that causes lower levels of cholesterol.
December 2, 2021.
Michael Le Page is a person.
A human's heart is being scanned.
K H Fung/SCIENCELIBRARY.
Old Order Amish people have been shown to have a reduced risk of heart disease due to a rare genetic variation.
The hope is that it will be possible to develop treatments that have the same effect. She says the effect is strong.
The Old Order Amish population can be more common than the general population because of their small number of people. Studying these populations can reveal a lot.
The researchers found that a variation in a gene called B4GALT1 was associated with lower levels of low-density lipoprotein cholesterol. The bad cholesterol is what she says.
It was also associated with lower levels of the blood clot-causing substance, fibrinogen. The risk of heart disease is increased by high levels of fibrinogen. Only 6 per cent of the people studied have the same abnormality.
Injection could permanently lower cholesterol.
The team looked at large databases and found that the variant in the gene was associated with a reduced risk of heart disease. They also caused similar changes in mice to confirm the cause of the lower levels.
Montasser says the evidence is robust. She says that there is no sign of a downside to this variant. The people with the mutation look healthy. It might turn out to be a beneficial variant that has not become common because of its benefits only appearing late in life.
The team is trying to figure out 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 be permanently lowered by using the CRISPR gene editing method. The approach works in mice.
Montasser says it is possible. She says that this approach may not be the best way to treat common diseases.
The journal is called Science.
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