Rare Gene Mutations That may Prevent Heart Disease Discovered

by Colleen Fleiss on  May 15, 2019 at 3:10 AM Heart Disease News
RSS Email Print This Page Comment bookmark
Font : A-A+

In the apolipoprotein B (APOB) gene, protein-truncating variants were found to be associated with lower triglyceride and LDL cholesterol levels. The protein-truncating variants were also linked to lower the risk of coronary heart disease by 72 percent, according to a new study co-led by a Boston University School of Public Health (BUSPH) researcher. Published in the journal Circulation: Genomic and Precision Medicine.
Rare Gene Mutations That may Prevent Heart Disease Discovered
Rare Gene Mutations That may Prevent Heart Disease Discovered

Protein-truncating variants in the APOB gene are among the causes of a disorder called familial hypobetalipoproteinemia (FHBL), which causes a person's body to produce less low-density lipoproteins (LDL) and triglyceride-rich lipoproteins. People with FHBL generally have very low LDL cholesterol, but are at high risk of fatty liver disease. "An approved drug, Mipomersen, mimics the effects of having one of these variants in APOB, but due to the risk of fatty liver disease, clinical trials for cardiovascular outcomes won't be done," says study co-lead author Dr. Gina Peloso, assistant professor of biostatistics at BUSPH. "Using genetics, we provided evidence that targeting this gene could reduce the risk of coronary heart disease."

The researchers sequenced the APOB gene in members of 29 Japanese families with FHBL. Eight of the Japanese families had protein-truncating variants in APOB, and individuals with one of those variants had LDL cholesterol levels 55 mg/DL lower and triglyceride levels 53 percent lower than individuals who did not have an APOB variant.

The researchers also sequenced the APOB gene in 57,973 participants of a dozen coronary heart disease case-control studies of people with African, European, and South Asian ancestries, 18,442 of whom had early-onset coronary heart disease. Again, they found that people with these APOB gene variants had lower LDL cholesterol and triglyceride levels. Only 0.038 percent of the people with coronary heart disease carried an APOB variant, while 0.092 percent of those without coronary heart disease did, indicating that carrying gene variants in APOB reduces the risk of coronary heart disease.

Source: Eurekalert

Post a Comment

Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
Notify me when reply is posted
I agree to the terms and conditions
Advertisement

Recommended Reading

More News on:

DNA Finger Printing Cardiac Catheterization Heart Attack Air travel: To fly or not to fly Diet Lifestyle and Heart Disease Body Mass Index Silent Killer Diseases Heart Healthy Heart Lifestyle Paths to Prevent Heart Disease 

News A - Z

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

News Search

Medindia Newsletters

Subscribe to our Free Newsletters!

Terms & Conditions and Privacy Policy.

Stay Connected

  • Available on the Android Market
  • Available on the App Store

News Category

News Archive