Navigation Links
Mount Sinai Researchers Identify Gene Mutations in Congenital Heart Disease
Date:5/12/2013

New York, NY (PRWEB) May 12, 2013

Mutations in eight genes have been linked to severe forms of congenital heart disease (CHD), according to a study involving investigators at the Icahn School of Medicine at Mount Sinai.
The study used an advanced technique known as high-throughput sequencing that enables scientists to obtain the sequence of all 22,000 human genes and the entire human genome at one time. Results from the study are published online today in the journal Nature.

The research was conducted through the National Heart, Lung, and Blood Institute (NHLBI)-supported Pediatric Cardiac Genomics Consortium, an international, multi-center collaborative effort. The NHLBI is part of the National Institutes of Health (NIH).

“The eight genes that we identified are important in chromatin remodeling,” said a study coinvestigator, Bruce D. Gelb, MD, Director of The Mindich Child Health and Development Institute (MCHDI) at the Icahn School of Medicine at Mount Sinai.

Chromatin remodeling controls which genes work in which cells. For example, chromatin remodeling makes sure that only genes that control the heart are used in the heart, and genes that are used in the brain are turned on and off in the brain. When chromatin remodeling genes are altered, the on/off status of many genes is altered.

“Together, all of the gene mutations we found account for about 10 percent of the severe congenital heart disease,” said Dr. Gelb. “We may eventually be able to offer better early interventions that slow the natural history of congenital heart disease.”

Congenital heart disease affects approximately 8 in 1,000 newborns. It encompasses a wide variety of defects. Some forms of CHD can be lethal, complex to treat, and can lead to serious intellectual and developmental disabilities. Other forms of CHD require no treatment or can easily be fixed. Congenital heart disease is rarely inherited.

Mutations in genes that control chromatin remodeling have already been implicated in cancers. Some drugs that target chromatin remodeling have already been approved and many more are in the pipeline, according to Dr. Gelb.

With only 30 genes identified out of more than 400 genes believed to be important in congenital heart disease, Dr. Gelb says that researchers will next examine many more parents and their affected children.

As the genetic architecture underlying congenital heart disease becomes better understood, genetic testing will become more widely used. What is clear, thus far, is “that parents participating in these studies take comfort in learning that a congenital heart defect or another problem results from a cause that no one had any control over,” said Dr. Gelb. “That is, it wasn’t their fault or the fault of the medical care that they received.”

For the study, researchers used exome sequencing of 362 parent-child trios: parents with no identifiable heart disease and a child with severe congenital heart disease. The major types of severe congenital heart disease among the children included conotruncal defects (abnormal heart outflow formation), left ventricular obstruction (impaired blood flow from the heart’s main pumping chamber), and heterotaxy (abnormal formation of the left-right sides of the body). The children also had other impairments related to the heart problems, especially neurodevelopmental delays and poor growth.

Read the full story at http://www.prweb.com/releases/2013/5/prweb10724946.htm.


'/>"/>
Source: PRWeb
Copyright©2012 Vocus, Inc.
All rights reserved

Related medicine news :

1. Icahn School of Medicine at Mount Sinai Honors Innovators in Scientific Research and Health Care Philanthropy at 2013 Commencement Ceremony
2. The Mount Sinai Medical Center Adopts HIPAA-Compliant Mobile Care App Across the Enterprise
3. Mother’s Mountain Sponsors 31st Annual Sugarloaf Marathon
4. Maria Mountain Announces “The Hockey Workout Club”
5. Appliance Repair Huntsville AL "Best of the Best" Awarded to Mr. Appliance Over the Mountain for Excellence by Follow Media Consulting, Inc.
6. Stryker Hip Recall Lawsuits Stemming from Rejuvenate and ABG II Hip Stem Recall Continue to Mount in New Jersey Litigation
7. Jinwill lighting Releases LED Flood Light with Magnetic Mount Pedestal Base
8. GranuFlo Lawsuits Filed in Wake of GranuFlo and NaturaLyte Recall Mount in State and Federal Courts, Bernstein Liebhard LLP Reports
9. Mountain Climbers Bodyweight Ab Exercise Demonstrated in New Video from Bodyweight Torch
10. Appliance Repair Birmingham AL "Best of the Best" Awarded to Mr. Appliance Over the Mountain for Excellence by Follow Media Consulting, Inc.
11. Paramount Direct Marketing Announces They Will Be Attending the Integrated Marketing Week Conference.
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/24/2017)... ... July 24, 2017 , ... “Journey to the Light: The Quest for Happiness ... young woman’s path to finding herself. “Journey to the Light: The Quest for ... Grayson, an experienced writer of newsletters, manuals, and articles, who has recently decided to ...
(Date:7/23/2017)... ... July 23, 2017 , ... ... of education and training standards for healthcare treatment providers, offers healthcare professionals ... the iaedp™ Core Curriculum. , Presented as either online or as a ...
(Date:7/23/2017)... TORONTO, ONTARIO, CANADA (PRWEB) , ... July 23, ... ... the effects of single sport specialization is critical, say researchers presenting their work ... Meeting in Toronto, Canada. , “Our study is the first one to ...
(Date:7/23/2017)... ... 23, 2017 , ... “I Am Not Nothin’: The Serpent Handler’s Daughter” is ... read and write and a brokenhearted young soldier who turned to whiskey after his ... about the power of simple faith is the work of published author Tommy G. ...
(Date:7/23/2017)... ... July 23, 2017 , ... Viora Ltd., a leading ... Patent No. 9,038,640 by the United States Patent and Trademark Office. The patent ... of Switching, Vacuum, and Cooling mechanisms to further increase the efficacy and safety ...
Breaking Medicine News(10 mins):
(Date:7/21/2017)... and EDMONTON, Alberta ... ) scientists and the University of Alberta in ... new data in Nature,s partner journal, Schizophrenia 1 ... helped predict instances of schizophrenia with 74% accuracy. ... the severity of specific symptoms in schizophrenia patients ...
(Date:7/20/2017)... PAUL, Minn. , July 20, 2017  Prime Therapeutics ... Jonathan Gavras , M.D., following today,s Institute for Clinical ... report on the effectiveness and value of abuse-deterrent ... manager on the policy roundtable at the meeting. ... is not a material cost benefit to the use of ...
(Date:7/14/2017)... International plc (NASDAQ: ENDP ) will announce its second-quarter ... senior management team will host a conference call and webcast before ... The dial-in number to access the call is U.S./ ... is 45397076. Please dial in 10 minutes prior to the scheduled ... of the call will be available from August 8, 2017 at ...
Breaking Medicine Technology: