Amish protected from CHD by gene mutation, not their rural diet
- From: Taka <taka0038@xxxxxxxxx>
- Date: Thu, 11 Dec 2008 18:04:18 -0800 (PST)
Researchers discover gene mutation that helps prevent heart 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. The
results of the study will be published in the Dec. 12, 2008, issue of
the journal Science.
"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.
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.
SOURCE: http://www.physorg.com/news148227079.html
.
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