New DNA Map May Help Cure Congenital Heart Defects

 New DNA Map May Help Cure Congenital Heart Defects

Reasearchers from Gladstone Institute in California have created a blueprint map of how the heart developes in time. The purpose of this study was to create a genomic and epigenomic blueprint in order to reveal the exact sequence and timing of all the changes a heart goes through, from the embryonic stem cell stage to the grown adult heart.

Thanks to the recent data found by the researchers from Gladstone, new treatments can now be developed for people suffering from congenital heart defects, the most common type of birth defects. Heart defects like ventricular septal defects or arrhythmias occur at a genetic level. However, by what means these defects have developed are still yet to be found.

The study only focuses on a particular set of genes, that give the heart cells their unique identity, explained senior investigator and team leader Benoit Bruneau. In order to create a new heart, the scientists put embryonic stem cells from mice in a culture similar to an embryonic development enviroment. Afterwards the embryonic stem cells were reprogrammed to grow and form beating heart cells.

The next step was to study the epigenomic signatures. Using a gene-sequencing tool, called CHIP-seq, they managed to create a detailed map which shows how the genes switch on and off during different stages of the growth process. After finding these epigenomic signatures, researchers had to decipher the genetic information encoded in the genes. They used all the data collected  by the Gladstone Bioinformatics Core and organized it into a concise blueprint, explained dr Jeffrey Alexander, co-lead author.

congenital Heart Defect

The scientists found important, new groups of genes which are believed to be involved in the development of the heart. They also discovered a link between the newly discovered groups of genes and the previously known genes.  Moreover significant information about the working mechanism of the genes from heart stem cells was discovered. The genes seem to turn on and off together at the exact stages of the embryonic heart development.

Thanks to the detailed map of how the genes work, scientists are convinced they can figure out how a disease can interfere with the normal growth process of the heart cells. Awearness of the complexityof genetic and epigenetic patters will help researchers prevent, intervene or oppose the appearance of a disease.

Doctor Bruneau, also professor of pediatrics at UCSF said that their main focus will be on finding a treatment plan for children born with congenital heart defects. He also pointed out that their next step towards finishing the study will be to “pinpoint the specific genetic disruption that caused their heart defect”.

After identifying the genetic disruption, Bruneau and his team can start restoring normal gene function during the early stages of heart development. As a result, the number of babies born with congenital heart defects will be significantly reduced , Doctor Bruneau added.