Navigation Links
Mount Sinai Researchers Identify Gene Mutations in Congenital Heart Disease

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

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:
(Date:11/27/2015)... ... 27, 2015 , ... The rapid speed at which Americans ... more care is needed, especially with Alzheimer’s, dementia and other cognitive conditions becoming ... The forgotten part of this equation: 80 percent of medical care occurs in ...
(Date:11/27/2015)... ... November 27, 2015 , ... The ... of USA Today in Atlanta, Dallas, New York, Minneapolis, South Florida, with a ... component is distributed nationally, through a vast social media strategy and across a ...
(Date:11/27/2015)... ... November 27, 2015 , ... A simply groundbreaking television series, ... interesting show that delves into an array of issues that are presently affecting Americans. ... from open dialogue, this show is changing the subjects consumers focus on, one episode ...
(Date:11/27/2015)... ... ... Dr. Thomas Dunlap and Dr. Patrick Coleman , cardiologist ... Medicine at St., Joseph Health System’s Santa Rosa Memorial Hospital , co-hosted the ... ways and require time-critical intervention to avoid large area heart damage and progressive infections ...
(Date:11/26/2015)... Toronto, ON and Cambridge, ON (PRWEB) , ... ... ... announced today the availability of a real-time eReferral system for diagnostic imaging in ... CTs, ultrasounds, X-rays, mammography, BMD and Nuclear Medicine tests directly from their electronic ...
Breaking Medicine News(10 mins):
(Date:11/29/2015)... , Nov. 29, 2015   National Decision Support ... its client base, including notable statewide implementations. As ... flagship solution, ACR Select, more than 1 million ... entry workflow. ACR Select provides real-time feedback on ... condition and has been implemented at over 100 ...
(Date:11/27/2015)... Research and Markets ( ) has ... Market 2015-2019" report to their offering. ... report, the author the present scenario and growth prospects ... calculate the market size, the report considers revenue generated ... IUDs and copper IUDs. The report forecasts the global ...
(Date:11/26/2015)... Netherlands , November 26, 2015 ... A new combination approach blends immunotherapy with Bremachlorin-photodynamic ... A new combination approach blends immunotherapy with Bremachlorin-photodynamic therapy ... A new combination approach blends immunotherapy with Bremachlorin-photodynamic therapy ... Netherlands has found that immunotherapy can be ...
Breaking Medicine Technology: