GENE VITAL TO FORM HEARTS ‘LARGE VESSELS’
STUDY PUBLISHED IN NATURE CELL BIOLOGY
Scientists at the Victor Chang Cardiac Research Institute have shown for the first time how a single gene plays a vital role in forming the large vessels that lead from the heart, including the aorta, which supply the upper body and head with oxygenated blood.
In babies, sections of these large vessels are sometimes constricted or missing, which can be life threatening, and in Australia, congenital heart disease is the biggest killer of children under five1.
In collaboration with colleagues at Massachusetts General Hospital and Harvard Medical School, the scientists explored the role of the heart regulatory gene Nkx2-5 in both zebrafish and mouse embryo models, and discovered that in the absence of this gene the large vessels leading out of the heart did not form properly.
While the primitive blood vessel-forming cells were created and located normally, they could not join together to form a network of vessels, nor could they express genes reflecting a specialised vessel lining.
The Nkx2-5 gene acts much like an orchestra conductor, telling heart cells with precise timing when they should specialise, grow and divide. In fruit flies, mutations in this gene stop the heart from forming altogether, resulting in it being dubbed the ‘Tinman’ gene2.
Professor Richard Harvey, Head of the Developmental and Stem Cell Biology Laboratory at the Victor Chang Cardiac Research Institute said:
“In this study we were looking at the arteries of the pharyngeal region, a complex network of vessels which are specified during embryonic life. These go on to be remodeled in response to the emerging blood flow to form part of the aorta, the largest vessel in the body, and arteries of the head and neck that are fed directly by the heart.
“In the absence of this particular gene, we showed these important arteries simply could not form, and so our work may shed new light on how faults in certain gene pathways lead to vascular defects in babies.
“To make progress in managing congenital heart disease, we need to understand how these conditions arise and progress. Our ultimate goal is to help prevent its potentially devastating onset, and the significant pain and suffering it can bring to both affected babies and their families.”
For further information, please contact Hayley Dodman, Communications Manager, Victor Chang Cardiac Research Institute, on (02) 9295 8715/0414 968 279 or email firstname.lastname@example.org
Notes to editors
- 2In reference to The Wizard of Oz character ‘Tinman’, who didn’t have a heart
- This study will be published electronically via Advanced Online Publication (AOP) by Nature Cell Biology on 28 October 2013 at 04:00am (AEST). From this time the abstract and full text will be available via the following link: http://dx.doi.org/10.1038/ncb2862
- This study was funded by the Australian National Health and Medical Research Council (NHMRC)
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