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:1/17/2017)... (PRWEB) , ... January 17, 2017 , ... ... families from two offices in Tyler, has announced the latest beneficiary of their ... Wish Network, a nonprofit organization dedicated to fulfilling the dreams of terminally ill ...
(Date:1/17/2017)... ... January 17, 2017 , ... Many people make New Year’s resolutions or renew their commitment ... is making it easier for people who want to kick off 2017 with better smiles. ... patients. , These special offers include: , , A new ...
(Date:1/17/2017)... ... January 17, 2017 , ... ... the Montclair State University’s Athletic Training Education program forged a relationship built upon ... Education Program, which is consists of both student members and certified members ...
(Date:1/16/2017)... ... 2017 , ... Recently, patients and staff from A Forever Recovery, a holistic ... in support of the annual Binder Park Zoo Halloween celebration known as the “Zoo ... of all designs coming out to enjoy games, face painting, and lots and lots ...
(Date:1/16/2017)... (PRWEB) , ... January 16, 2017 , ... Gym Source, ... of a new showroom in East Hanover, New Jersey. , “We are elated to ... “The new innovative in-store concept is designed to give clients a seamless and motivating ...
Breaking Medicine News(10 mins):
(Date:1/17/2017)... , January 17, 2017 - First ... MENA healthcare market expected to grow by a CAGR of ... Holding, the Qatari holding company which operates globally across a number ... achieved a number of notable successes and is well-positioned for further ... ...
(Date:1/16/2017)... -- Summary GlobalData,s new report, "North ... market data on the North America Bone Densitometers market. ... volume (in units) and average prices (USD) within market ... Ultrasound (QUS). The report also provides company shares ... segements, and global corporate-level profiles of the key market ...
(Date:1/16/2017)... , Jan. 16, 2017 Derek ... Potts Law Firm, was recently appointed Liaison Counsel in ... (JCCP) for all Xarelto cases. In this role, Potts ... parties and will actively assist the Court and Co ... with Milstein Adelman Jackson Fairchild & ...
Breaking Medicine Technology: