Rare mutations can significantly increase risk factor for heart disease

Certain rare gene mutations can contribute significantly to low levels of a beneficial form of cholesterol in the blood, researchers have found. Low levels of this cholesterol, known as high-density lipoprotein (HDL), are a major risk factor for heart disease.

Gene mutations previously known to affect HDL levels had small effects individually, and it was thought many such mutations needed to accumulate before HDL levels were significantly reduced. The new finding, however, demonstrates that mutations in a few genes can be sufficient to affect blood cholesterol levels. According to the researchers, the strategy used in this study can be generalized to analyze the role of rare variations in candidate genes in other clinically important complex human traits.

Led by Howard Hughes Medical Institute investigator Helen H. Hobbs, who is at the University of Texas Southwestern Medical Center at Dallas, the researchers published their findings in the August 6, 2004, issue of the journal Science. Hobbs' colleagues from the University of Texas Southwestern and the University of Ottawa Heart Institute were coauthors on the paper.

HDL is important for preventing heart disease because it transports cholesterol in the blood back to the liver, leading to its removal from the body and preventing its buildup on artery walls. The level of HDL in the blood is a complex trait, influenced to varying degrees by many genes, as well as environmental and lifestyle factors such as diet and exercise.

Previously, researchers believed that the genetic component of this trait depended primarily on the cumulative effect of many common genetic variations, each of which influenced HDL levels in a small way. However, rare variations with stronger effects are also likely to be involved. "What we wanted to know," Hobbs said, "was how much do single gene defects with major effects contribute to complex traits?"

Although mutations with such a strong effect on overall HD

Contact: Jennifer Michalowski
Howard Hughes Medical Institute

Page: 1 2 3 4

Related biology news :

1. Genetic mutations linked to the practice of burning coal in homes in China
2. The mother lode of mutations
3. Mastectomy dramatically reduces breast cancer risk among women with BRCA1/2 mutations
4. Yeast mutations offer window into human disease
5. Ancient DNA mutations permitted humans to adapt to colder climates, UCI researchers find
6. BRCA mutations not associated with colorectal cancer risk, studies suggest
7. BRCA mutations do not increase risk of colorectal cancer
8. Researchers describe novel gene mutations associated with Alzheimer disease
9. Major mutations, not many small changes, might lead way to new species
10. Genetics mutations resulting in delayed puberty are focus of MCG study
11. Gene mutations that cause hearing loss discovered

Post Your Comments:

(Date:3/27/2017)... CENTRE, N.Y. , March 27, 2017 /PRNewswire-USNewswire/ ... Healthcare Information and Management Systems Society (HIMSS) Analytics ... Outpatient EMR Adoption Model sm . In addition, ... 12% of U.S. hospitals using an electronic medical ... CHS for its high level of EMR usage ...
(Date:3/24/2017)... Mar 24, 2017 Research and Markets has ... Market Analysis & Trends - Industry Forecast to 2025" report ... ... at a CAGR of around 15.1% over the next decade to ... report analyzes the market estimates and forecasts for all the given ...
(Date:3/23/2017)... -- Research and Markets has announced the addition of ... Industry Forecast to 2025" report to their offering. ... The Global Vehicle Anti-Theft ... 8.8% over the next decade to reach approximately $14.21 billion by ... and forecasts for all the given segments on global as well ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... The Blavatnik Family ... and six Finalists of the 2017 Blavatnik Regional Awards for Young Scientists. ... and administered by the New York Academy of Sciences to honor the excellence ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... analysis platform specifically designed for life science researchers to analyze and interpret ... Rosalind Franklin, who made a major contribution to the discovery of the ...
(Date:10/11/2017)... ... October 11, 2017 , ... Proscia ... be hosting a Webinar titled, “Pathology is going digital. Is your lab ready?” ... pathology adoption best practices and how Proscia improves lab economics and realizes an ...
(Date:10/11/2017)... ... October 11, 2017 , ... Singh Biotechnology ... drug designation to SBT-100, its novel anti-STAT3 (Signal Transducer and Activator of Transcription ... is able to cross the cell membrane and bind intracellular STAT3 and inhibit ...
Breaking Biology Technology:
Cached News: