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Gene Mutation Might Protect From Heart Disease, Cholesterol

A new study finds a gene mutation may protect people from high levels of bad cholesterol and heart disease, and could be used to develop treatments.
Posted at 1:22 PM, Nov 13, 2014

A genetic mutation could be protecting people from heart disease, according to a study published this week in the New England Journal of Medicine

Most genes come in pairs, and researchers found that people with a mutation that causes a single copy of the gene NPC1L1 to switch off are better protected from high levels of bad cholesterol and heart disease.

One of the study's lead authors said in a press release"This analysis demonstrates that human genetics can guide us in terms of thinking about appropriate genes to target for clinical therapy."

The study comes at a time when doctors and researchers are grappling with the role of genetics in medicine.

In a survey also published this week, 929 readers of the New England Journal of Medicine were asked if they would perform genetic testing on a fictional patient who asked for the testing due to concern about his cancer risk.

Forty percent of respondents would not perform any genetic testing. Of the 60 percent who would, 47 percent would limit the testing to cancer genes only. 

Many of the respondents raised concerns about managing the results of such a test, whether positive or negative. 

But the genetic mutation found in the study would more likely be used to develop treatments for patients, rather than to assess risk.

Another author called genetic mutations like the one found in NPC1L1 "a treasure trove for human biology," adding, "They can teach us about the underlying causes of disease and point to important drug targets."

Researchers said the mutation was rare, occurring in just one out of every 650 participants in the study.

This video includes images from Getty Images.