Gene that causes heart defects found
London: 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
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
"A greater understanding of molecular events in early
development brings us that much closer to personalised
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.