For the first time, scientists have made a distinction between two types of congenital heart disease, one where causative mutations occur spontaneously, and one where risk genes are inherited from parents unaware of the inheritance.
Congenital heart disease is a common developmental defect that affects over a million newborns worldwide every year. Many babies born with a congenital heart defect have a life full of disability ahead of them, and expecting parents are often concerned with knowing their risk of their child developing a development defect like this.
Researchers from the Wellcome Trust Sanger Institute conducted their recent study in hopes to alleviate the qualms of worried parents. After sequencing and analyzing the exome of over 1900 patients with congenital heart disease and their parents, researchers came to the conclusion that the genetic circumstances of two different types of congenital heart disease define the outcomes of the patients involved.
“We are trying to find the subset of genes with the highest risk of causing non-syndromic congenital heart disease,” explained lead author Dr. Mathew Hurles.
The exome, AKA the protein-coding segments of the genome, revealed in this study that one type of congenital heart disease, which affects 90 percent of patients, is due to an inheritance from specific gene variants from seemingly healthy parents. On the other hand, a rarer form of the disease that affects the remaining percentage of congenital heart disease patients is due to random, spontaneous mutations unrelated to the DNA of their parents.
For people with the rarer form of the disease, called non-syndromic, they are often plagued with other developmental problems in addition to heart defects, including abnormalities in organs other than the heart and intellectual disabilities.
How will parents know if their second child is at risk for congenital heart disease if their first child has the disease? Additionally, how will parents with their first child on the way know if their child could have a rare, spontaneous mutation that could unexpectedly cause disease? Scientists from this study are hoping their research will answer these questions, and they already believe that their findings “could help further studies identify biological mechanisms important for normal development of the embryo.”
This study was recently published in Nature Genetics
Sources: Wellcome Trust Sanger Institute