Featured Research

from universities, journals, and other organizations

First gene detected for most common form of mitral valve prolapse

Date:
October 24, 2013
Source:
American Society of Human Genetics
Summary:
DNA of large, multi-generational family provided genetic clue to location of gene for common heart disease, mitral valve prolapse. Researchers then used animal models to define normal biological functions altered by gene mutation.

Research on the DNA of a large multi-generational family has provided a genetic clue that enabled scientists to pinpoint a gene that plays a role in mitral valve prolapse (MVP), a common cardiac disease that is a leading cause of heart failure, according to a study presented at the American Society of Human Genetics 2013 meeting in Boston.

Related Articles


The scientists who located the gene, named DCSH1, also determined how mutations in this gene disrupt the normal embryonic development of the mitral valve, one of the valves that controls blood flow in the heart.

"This work provides insights into the pathways regulating valve growth and development," said Susan Slaugenhaupt, Ph.D., Associate Professor of Neurology in the Center for Human Genetic Research at Massachusetts General Hospital and Harvard Medical School and one of the lead scientists in the collaborative group that conducted the research.

"The results implicate a previously unrecognized paradigm in the development of long-term structural integrity in the mitral valve," said Ronen Y. Durst, M.D., former member of Dr. Slaugenhaupt's lab and now a senior cardiologist at Hebrew University and Hadassah Medical Center in Jerusalem. Dr. Durst presented the study this afternoon at ASHG 2013.

The researchers' first step was to link MVP to a region on human chromosome 11 in the DNA of the group of relatives with the heart disorder. By sequencing that DNA region in family members, the scientists were able to link mutations in DCSH1 to MVP.

To understand the normal biological functions altered by the mutated copy of DCSH1, the researchers turned to two animal models, zebrafish and mice. Experimentally reducing the expression level of the zebrafish version of DCSH1 resulted in abnormal heart development.

"Treating the zebrafish embryos with the normal copy of the DCHS1 gene rescued the lesion, while the mutated human DCHS1 gene did not," said Dr. Slaugenhaupt. "This finding constitutes strong evidence that the mutation disrupts the normal function of DCHS1."

To begin to understand the normal function of DCHS1 in the valve, the researchers obliterated, or knocked out, the gene in mice. The mice were born with excessive connective tissue in the mitral valve that was elongated, thickened, and the valve prolapsed into the left atrium, as in the human disease.

The scientists then traced the excessive connective tissue to developmental errors in the alignment of interstitial cells responsible for proper heart valve development and growth. "These developmental errors cause mitral valve prolapse and regurgitation in adult mice," said Dr. Slaugenhaupt.

DCHS1 is the first gene implicated in the most common form of MVP, which is not associated with other syndromes. MVP is the most common indication for surgical intervention to repair the mitral valve.

Dr. Slaugenhaupt said that the research was an interdisciplinary collaboration among scientists specializing in human genetics, cardiac imaging, zebrafish modeling and developmental biology with mouse modeling, with funding provided the by the Leducq Foundation Transatlantic Network of Excellence for Mitral Valve Disease.


Story Source:

The above story is based on materials provided by American Society of Human Genetics. Note: Materials may be edited for content and length.


Cite This Page:

American Society of Human Genetics. "First gene detected for most common form of mitral valve prolapse." ScienceDaily. ScienceDaily, 24 October 2013. <www.sciencedaily.com/releases/2013/10/131024160517.htm>.
American Society of Human Genetics. (2013, October 24). First gene detected for most common form of mitral valve prolapse. ScienceDaily. Retrieved December 22, 2014 from www.sciencedaily.com/releases/2013/10/131024160517.htm
American Society of Human Genetics. "First gene detected for most common form of mitral valve prolapse." ScienceDaily. www.sciencedaily.com/releases/2013/10/131024160517.htm (accessed December 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, December 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Touch-Free Smart Phone Empowers Mobility-Impaired

Touch-Free Smart Phone Empowers Mobility-Impaired

Reuters - Innovations Video Online (Dec. 21, 2014) A touch-free phone developed in Israel enables the mobility-impaired to operate smart phones with just a movement of the head. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Earthworms Provide Cancer-Fighting Bacteria

Earthworms Provide Cancer-Fighting Bacteria

Reuters - Innovations Video Online (Dec. 21, 2014) Polish scientists isolate bacteria from earthworm intestines which they say may be used in antibiotics and cancer treatments. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Reuters - Innovations Video Online (Dec. 21, 2014) A team of scientists led by Danish chemist Jorn Christensen says they have isolated two chemical compounds within an existing antipsychotic medication that could be used to help a range of failing antibiotics work against killer bacterial infections, such as Tuberculosis. Jim Drury went to meet him. Video provided by Reuters
Powered by NewsLook.com
Hugging It Out Could Help You Ward Off A Cold

Hugging It Out Could Help You Ward Off A Cold

Newsy (Dec. 21, 2014) Carnegie Mellon researchers found frequent hugs can help people avoid stress-related illnesses. Video provided by Newsy
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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