HOME >> BIOLOGY >> NEWS
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
michalow@hhmi.org
301-215-8576
Howard Hughes Medical Institute
16-Aug-2004


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:
*Name:
*Comment:
*Email:


(Date:6/14/2017)... (NYSE: IBM ) is introducing several innovative partner startups ... collaboration between startups and global businesses, taking place in ... nine startups will showcase the solutions they have built with ... France is one of the ... percent increase in the number of startups created between 2012 ...
(Date:5/16/2017)... 16, 2017   Bridge Patient Portal , ... MD EMR Systems , an electronic medical ... GE, have established a partnership to build an ... the GE Centricity™ products, including Centricity Practice Solution ... These new integrations will allow healthcare delivery ...
(Date:4/19/2017)... New York , April 19, 2017 ... competitive, as its vendor landscape is marked by the ... the market is however held by five major players ... Safran. Together these companies accounted for nearly 61% of ... of the leading companies in the global military biometrics ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... ... platform specifically designed for life science researchers to analyze and interpret datasets, ... Franklin, who made a major contribution to the discovery of the double-helix ...
(Date:10/11/2017)... ... ... Personal eye wash is a basic first aid supply for any work environment, but most ... you rinse first if a dangerous substance enters both eyes? It’s one less decision, and ... unique dual eye piece. , “Whether its dirt and debris, or an acid or alkali, ...
(Date:10/11/2017)... , Oct. 11, 2017  VMS BioMarketing, a leading ... a nationwide oncology Clinical Nurse Educator (CNE) network, which will ... need for communication among health care professionals to enhance the ... nurses, office staff, and other health care professionals to help ... breast cancer. ...
(Date:10/11/2017)... ... October 11, 2017 , ... ... implantation and pregnancy rates in frozen and fresh in vitro fertilization (IVF) ... and maternal age to IVF success. , After comparing the results from the ...
Breaking Biology Technology:
Cached News: