BREAKTHROUGH DISCOVERY: A CLUE TO UNDERSTANDING HEART PROBLEMS IN BABIES

Researchers at the Victor Chang Cardiac Research Institute (VCCRI) have made a breakthrough in heart research that addresses the origin of heart defects in babies, by discovering that certain types of congenital heart problems occur at a much earlier stage in the development of a baby than ever expected.

The work, which has just been published in the prestigious biomedical journal, "Cell", shows that the heart problems occur not during the development of the heart, as was previously thought, but instead at an earlier time in very immature cells that are still only destined to become the heart. These cells are called heart progenitor cells.

"Previously it was believed that heart defects such as a hole in the heart originated as the heart was forming," explained Professor Richard Harvey, Head, Developmental Biology Program, VCCRI and Sir Peter Finley Professor of Heart Research, University of New South Wales, who led the research team. "The work we conducted has shown that these problems can actually result from much earlier defects in the heart progenitor cells that only later develop into the heart".

The team of researchers at the Victor Chang Cardiac Research Institute discovered a new genetic pathway in heart progenitor cells involving a gene called Nkx2-5.

Nkx2-5 is an important regulator gene in heart development and it is the most common single gene altered or mutated in congenital heart disease, accounting for 1-4% of heart problems, such as a hole in the heart. Congenital heart defects are responsible for more deaths in the first year of life than any other birth defect, yet for most there are still no therapies to treat these problems apart from major open-heart surgery.

"The result of defects in the Nkx2-5 gene is that this genetic pathway fails, which slows the production rate of new heart cells from the progenitor cells. This leads to problems such as a hole in the heart, incorrect positioning of major vessels such as the aorta, and heart valve problems," said Dr Owen Prall, the lead author of the paper.

While this work has advanced the understanding of how certain heart defects occur, it may be some time before therapies can be developed to stop children developing these problems. Nevertheless, therapies for adults are also likely to be advanced by this discovery.

"It is now known that adult hearts also contain small numbers of heart progenitor cells, and the findings from the Nkx2-5 study suggest that in the near future we may be able to aid people who have experienced heart failure, by boosting the number of these cells so that damaged muscle can be repaired," said Dr Prall.

Established in 1994, the Victor Chang Cardiac Research Institute (VCCRI) is committed to excellence in research into heart disease and cardiovascular biology, cardiovascular research training, and facilitating the rapid application of research discoveries to patient care.  

To donate to the Victor Chang Cardiac Research Institute call (02) 8382 3022 or visit www.victorchang.com.au

Further Information: 

Prue MacSween
Verve Communications
(02) 8234 4300 or 0417 635 045

Gabrielle Thomson
Victor Chang Cardiac Research Institute
(02) 8382 3586 or 0408 862 040

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