Thanks to the Human Genome Project the world is more aware of the importance of genes and the potential to identify problems with genes and correct them -- instead of just palliating congenital conditions, now we are learning about ways to cure certain genetic conditions. It's an exciting time to watch the development of "gene therapy" and the possibilities of eradicating certain birth defects.
In 2001it was discovered that there was a gene that linked hypertrophic cardiomyopathy to the genetic conditions Noonan syndrome and LEOPARD syndrome. Hypertrophic cardiomyopathy is a condition where the heart wall thickens and enlarges for no apparent reason. Many of us are aware of the condition when we hear about athletes who suddenly pass away and it's discovered they had an undiagnosed heart defect. Hypertrophic cardiomyopathy can lead to sudden cardiac death of apparently healthy individuals.
According to an article in Health News Digest http://www.healthnewsdigest.com/news/Heart_Health_410/Compound-improves-cardiac-function-in-mice-with-genetic-heart-defect.shtml "In Noonan and LEOPARD syndromes, the thickened heart muscle of hypertrophic cardiomyopathy is caused by a defective Shp2 protein, created by a mutation in the gene PTPN11.
The mutation helped doctors to understand what was wrong, but they still didn't know what to do to fix the problem. Little was known about the biochemisty or Shp2 or hypertrophic cardiomyopathy. Dr. Maike Krenz and his team decided to test whether they could interrupt the heart's hypersensitivity to growth signals by giving a chemical compound, PHPS1 to mice with a mutated gene that produced the defective Shp2 protein. According to Dr. Krenz, "Not only did the compound reduce the thickness of the heart muscle to the size of normal heart muscle, but it also improved the cardiac pumping of the heart."
After this experiment is conducted on humans and proves to be as effective as it is in mice, this compound could prevent those with hypertrophic cardiomyopathy from dying unnecessarily -- once the heart condition (if caused by the defective Shp2 protein) is caught early enough.
Dr. Krenz presented the research findings, "Inhibition of Shp2's Phosphatase Activity Ameliorates Cardiac Hypertrophy in LEOPARD Syndrome Models," at the American Heart Association's Scientific Sessions conference in November 2013, where it received the Outstanding Research Award in Pediatric Cardiology.
To read the article "New Approaches to Prevent LEOPARD Syndrome-Associated Cardiac Hypertrophy by Specifically Targetting Shp2-Dependent Signaling"published in The Journal of Biological Chemistry and submitted by Christine Schramm, Michelle A. Edwards and Maike Krenz, go here: http://www.jbc.org/content/288/25/18335.