A lot of gene mutations lead to health complications but this one actually protects from attacks, according to a study.
Researchers from the Washington University School of Medicine, Massachusetts Institute of Technology's Broad Institute, and other institutions analyzed data on 113,000 people gleaned from various studies, looking for certain individuals with a gene mutation that blocked NPC1L1 activity.
With NPC1L1 blocked, the body loses the ability to absorb cholesterol. This is how Merck's heart drug Zetia (generic name ezetimibe) works. Where traditional cholesterol medication like statins prevents the body from producing cholesterol, Zetia acts afterwards, reducing risks of heart attacks by keeping cholesterol out of the system in a different way.
Unfortunately, there's very little evidence that Zetia's function actually works. That is until this study.
According to their findings, researchers found out that out of all the subjects they examined, 82 had gene mutations involving NPC1L1. Because of the mutation, they only had one working copy of the gene. They also had lower levels of bad cholesterol or LDL (low-density lipoprotein), a whole 10 percent lower than those with two working copies of NPC1L1.
Additionally, compared to those with two working copies of the gene, those with single working NPC1L1s also had 50 percent less risk of heart disease.
"It's not possible to draw a direct conclusion about ezetimibe from this study. But we can say this genetic analysis gives us some confidence that targeting this gene should reduce the risk of heart attack. Whether ezetimibe specifically is the best way to target NPC1L1 remains an open question," explained Nathan O. Stitziel, MD, PhD, the study's first author and a cardiologist at the Washington University School of Medicine.
Those with single working copies of NPC1L1, however, did not differ with the rest of the subjects in other ways, such as rates of diabetes, body mass index, and blood pressure levels.
According to Broad Institute's Sekar Kathiresan, MD, the study's senior author and preventive cardiology director at Massachusetts General Hospital, protective mutations such as the one displayed by NPC1L1 for heart disease provides researchers with a gold mine for understanding the biology of humans. These mutations teach researchers regarding underlying causes for diseases and highlight important targets drugs can focus on, he added.
The study received funding support from the National Institutes of Health's National Human Genome Research Institute and the National Heart, Lung and Blood Institute, the Foundation for Barnes-Jewish Hospital, the Canadian Institutes of Health Research, the Donovan Family Foundation, Foundation Leducq, and Merck.
