Gene that causes heart defects found
In a discovery that could lead to early and better treatment for heart defects, scientists have identified a common gene responsible for abnormalities like holes in the heart that affects about five per cent of newborn babies.world Updated: May 27, 2010 15:34 IST
In a discovery that could lead to early and better treatment for heart defects, scientists have identified a common gene responsible for abnormalities like holes in the heart that affects about five per cent of new born babies.
Researchers at Children's Hospital of Philadelphia found that one section of a chromosome identified as "ISL1" appears to be linked to common heart defects.
Earlier, it was thought that congenital heart defects, which range in severity from tiny holes between heart chambers that close naturally to life-threatening deformities, was caused by a number of gene abnormalities.
But the new research showed they all have a common root in the gene ISL1 which is key to early heart development.
The breakthrough, scientists now believe, could lead to earlier and better treatment which can be customised to every single child, the Telegraph reported.
"We maybe better able to understand how a child will respond to surgery," said Dr Peter Gruber, the lead author of the study.
"A greater understanding of molecular events in early development brings us that much closer to personalised medicine."
For their study, Dr Gruber and his team looked at DNA samples from more than 1,500 children with the condition and more than 8,000 healthy children.
This confirmed that variants in the ISL1 gene had strong associations with congenital heart disease.
Discovering the gene means that doctors will be able to screen for it and offer earlier and more targeted treatment for children, said the report.
Congenital heart defects affect one in 20 babies but most heal themselves as the children grow. About one in 100 are so serious they need surgery.
Some children have no signs while others may exhibit a number of symptoms including shortness of breath, sweating and under developed limbs and muscles.
The findings of the study are published in the journal Public Library of Science One.