Navigation Links
Gene Mutation Linked to Congenital Heart Disease
Date:5/26/2010

Discovery may lead to better treatments down the road, researchers say

WEDNESDAY, May 26 (HealthDay News) -- A team of cardiologists and geneticists have identified a genetic mutation that appears to strongly raise the risk for congenital heart disease, the most common major birth defect.

Congenital heart disease (CHD), is the "Wild West" of genetics, rarely explored compared to diseases like cancer, according to study author Dr. Peter J. Gruber, a pediatric cardiothoracic surgeon and developmental biologist at The Children's Hospital of Philadelphia.

"This gene, ISL1, plays a key role in regulating early cardiac development, so there is a compelling biological reason for investigating it as a genetic risk factor for CHD," said Gruber in a news release.

Congenital heart disease strikes at least one in every 100 births, the authors note, and ranges in severity. In some cases, tiny holes that close up naturally are formed between heart chambers. In other instances, the situation is life-threatening and can require surgery.

"Instead of assuming separate genes would govern each specific defect, we formed the hypothesis that a common gene variant operates early in the biological pathway of heart formation," thus affecting many subtypes of congenital heart disease, Gruber explained.

Noting that his own prior research had shown that the ISL1 gene -- a genetic variation on chromosome 5 -- is involved in heart cell development, Gruber and his team set out to collect DNA samples from 1,344 children with congenital heart disease and 6,135 healthy children.

A subsequent analysis confirmed that variants in the ISL1 gene, in fact, did have a strong association with congenital heart disease.

"A greater understanding of molecular events in early development brings us that much closer to personalized medicine," Gruber noted, suggesting that the finding may eventually lead to improved surgical interventions down the road.

Gruber joined co-author and sibling Dr. Stephen B. Gruber -- a geneticist and epidemiologist at the University of Michigan Medical School -- to report the finding in the current online issue of the journal Public Library of Science One.

More information

For more on congenital heart disease, visit the U.S. National Institutes of Health.



SOURCE: Public Library of Science One, May 26, 2010, news release.


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. Gene Mutations Behind Brain Reduction
2. Single gene mutation induces endometrial cancer
3. Genetic Mutation Linked to Prostate Cancer in Blacks
4. Gene Mutations Identified for Charcot-Marie-Tooth Syndrome
5. Study shows that mutations in 1 gene cause many cancers
6. Parkinsons Linked to Genetic Mutation
7. Breast cancer patients with BRCA mutations 4 times more likely to get cancer in opposite breast
8. Gene Mutations Up Risk for Cancer in Opposite Breast
9. Gene Mutation Ups Risk of Sudden Death in People with Epilepsy
10. Heart Disease Among Childhood Cancer Survivors Tied to Gene Mutations
11. New research indicates that DNA sequence itself influences mutation rate
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/13/2016)... , ... February 13, 2016 , ... Hidden Cypress in Sun City is the place ... facial plastic surgery. Dr. Frederick Weniger will be hosting this educational seminar from ... event, and there will be special pricing on offers. In addition, prizes will be given ...
(Date:2/13/2016)... (PRWEB) , ... February 13, 2016 , ... The producers ... impact of American businesses. , The increasingly modern world of instantaneous consumption proves ... on non-renewable energy sources such as oil and coal, which pollutes our air, water, ...
(Date:2/13/2016)... ... 13, 2016 , ... DDi , a Makro company, ... for its expertise in eClinical Solutions. DDi has built its solution competency with ... of global clients. DDi provides smarter technology for Clinical Development, Regulatory and Enterprise ...
(Date:2/12/2016)... ... February 12, 2016 , ... The Lymphoma ... innovative lymphoma research and serving the lymphoma community through a comprehensive series of ... South Florida’s philanthropic community at its 10th anniversary Fashion Luncheon on Monday, February ...
(Date:2/12/2016)... , ... February 12, 2016 , ... Coco Libre, the ... in Red Carpet Events LA GRAMMY’s Style Lounge Event. Coco Libre will offer musicians ... stay hydrated before the big event. The invitation-only gifting suite, held this year at ...
Breaking Medicine News(10 mins):
(Date:2/12/2016)... and Company (NYSE: LLY ) today announced that the ... patent would not presently be infringed by Actavis marketing pemetrexed ... Italy and Spain ... --> --> In ... Lilly,s patent would be indirectly infringed by Actavis marketing certain ...
(Date:2/12/2016)... , Feb. 12, 2016  Apellis Pharmaceuticals, ... a $47.1 million Series D preferred stock ... Management, Hillhouse Capital Group and venBio Global ... Investments, AJU IB Investment, and Epidarex Capital. The ... to further advance clinical trials in the ...
(Date:2/11/2016)... , Feb. 11, 2016 The primary goal ... future adoption patterns on the usage of liquid biopsy. ... following: - Timeframe of liquid biopsy adoption ... cfDNA and Evs—by organization type - Sample inflow to ... blood, saliva, stool, serum, and so on. - Correlation ...
Breaking Medicine Technology: