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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 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.
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