Featured Research

from universities, journals, and other organizations

Gene Mutation Appears To Help Prevent Heart Disease

Date:
December 15, 2008
Source:
University of Maryland Medical Center
Summary:
Researchers have discovered a novel gene mutation among the Old Order Amish population that significantly reduces the level of triglycerides in the blood and appears to help prevent cardiovascular disease.

Researchers at the University of Maryland School of Medicine in Baltimore have discovered a novel gene mutation among the Old Order Amish population that significantly reduces the level of triglycerides in the blood and appears to help prevent cardiovascular disease.

"We found that about 5 percent of the Amish have a gene mutation that speeds up the breakdown of triglycerides, which are fat particles in the blood associated with an increased risk of coronary artery disease," says the lead investigator, Toni I. Pollin, Ph.D., an assistant professor of medicine at the University of Maryland School of Medicine. Carriers of the mutation have half the amount of apoC-III, a protein linked to triglycerides, than people without the gene variant.

The results of the study will be published in the Dec. 12, 2008, issue of the journal Science.

Dr. Pollin says that those with this mutation of the APOC3 gene have higher levels of HDL-cholesterol, the so-called "good" cholesterol, and lower levels of LDL-cholesterol, the "bad" cholesterol. In addition, they have less arteriosclerosis (hardening of the arteries) – as measured by the amount of calcium in their coronary arteries. "Our findings suggest that having a lifelong deficiency of apoC-III helps to protect people from developing cardiovascular disease," she says.

Triglycerides and cholesterol are lipids, or fats that circulate in the blood. ApoC-III is a protein that is bound to circulating lipids. It inhibits the breakdown of triglycerides so they stay in the blood longer. Elevated levels of apoC-III are associated with higher triglyceride levels.

"The discovery of this mutation may eventually help us to develop new therapies to lower triglycerides and prevent cardiovascular disease," Dr. Pollin says. This is the first reported mutation within the human APOC3 gene that specifically blocks the production of apoC-III, causing individuals who carry a copy of the mutation to produce half the typical amount of the protein.

More than 800 members of the Old Order Amish community in Lancaster County, Pa., participated in the study, which was funded by the National Heart, Lung, and Blood Institute of the National Institutes of Health. Researchers used a new approach called a genome-wide association study, or GWAS, to rapidly scan 500,000 markers in the DNA of the participants to find variations, or single nucleotide polymorphisms called SNPs, that are associated with triglyceride levels in the blood. This was followed by direct gene sequencing. The GWAS technique is being used widely by scientists around the world to track down genes associated with many diseases.

As part of the study, participants drank a high-fat milkshake and then were closely monitored for the next six hours with blood tests as well as ultrasound tests of their brachial artery to determine how well their arteries were coping with the fatty meal. Some also were tested to determine if there were calcium deposits in their coronary arteries, which is a clear sign of cardiovascular disease. "What we found is that people who have the mutation are much less likely to have any calcification," Dr. Pollin said.

Researchers believe the mutation was first introduced into the Amish community in Lancaster County by a person who was born in the mid-1700s. This mutation appears to be rare or absent in the general population.

Alan R. Shuldiner, M.D., the study's senior author, says, "The Old Order Amish are ideal for genetic research because they are a genetically homogenous people who trace their ancestry back 14 generations to a small group that came to Pennsylvania from Europe in the mid-1700s." Dr. Shuldiner is a professor of medicine; head of the Division of Endocrinology, Diabetes and Nutrition; and director of the Program in Genetics and Genomic Medicine at the University of Maryland School of Medicine.

The study is part of a larger University of Maryland research project, the Heredity and Phenotype Intervention (HAPI) Heart Study, which examined how genes and lifestyle factors influence the risk of developing cardiovascular disease.

Since 1993, Maryland researchers, led by Dr. Shuldiner, have conducted more than a dozen studies of the Amish, searching for genes that cause a variety of medical problems, such as type 2 diabetes, obesity, osteoporosis and high blood pressure. "We have uncovered a wealth of information in our studies of the Amish over the years, and much of what we have found is not only applicable to this unique population, but the general public as well," Dr. Shuldiner says.

Other co-authors include: Coleen M. Damcott, Ph.D., an assistant professor of medicine; Haiqing Shen, Ph.D., an instructor of medicine; Richard B. Horenstein, M.D., J.D., an assistant professor of medicine; John C. McLenithan, Ph.D., an assistant professor of medicine; Braxton D. Mitchell, Jr., Ph.D., an assistant professor of medicine and of epidemiology and preventive medicine; Michael Miller, M.D., an associate professor of medicine and of epidemiology and preventive medicine; and Jeffrey R. O'Connell, an assistant professor of medicine and of epidemiology and preventive medicine. Researchers from the University of Michigan School of Public Health and the Johns Hopkins University School of Medicine also contributed to the research.


Story Source:

The above story is based on materials provided by University of Maryland Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

University of Maryland Medical Center. "Gene Mutation Appears To Help Prevent Heart Disease." ScienceDaily. ScienceDaily, 15 December 2008. <www.sciencedaily.com/releases/2008/12/081211141830.htm>.
University of Maryland Medical Center. (2008, December 15). Gene Mutation Appears To Help Prevent Heart Disease. ScienceDaily. Retrieved April 18, 2014 from www.sciencedaily.com/releases/2008/12/081211141830.htm
University of Maryland Medical Center. "Gene Mutation Appears To Help Prevent Heart Disease." ScienceDaily. www.sciencedaily.com/releases/2008/12/081211141830.htm (accessed April 18, 2014).

Share This



More Health & Medicine News

Friday, April 18, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Little Progress Made In Fighting Food Poisoning, CDC Says

Little Progress Made In Fighting Food Poisoning, CDC Says

Newsy (Apr. 18, 2014) A new report shows rates of two foodborne infections increased in the U.S. in recent years, while salmonella actually dropped 9 percent. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins