Many Heart Defects Aren't Inherited, Study Finds
Researchers also found links between these anomalies and autism.
At least 10 percent of severe genetic heart defects are caused by new gene mutations that were not passed down from patients' parents, a new study finds.
Congenital heart disease is the most common form of birth defect and occurs in nearly 1 percent of newborns.
These findings provide new insight into the causes of this common congenital disease.
Researcher analyzed the genes of more than 1,800 people and identified hundreds of mutations that can cause congenital heart disease. In particular, the investigators found that frequent mutations occurred in genes that affect what's known as histones. Histones are proteins that package DNA in the cell's nucleus and control the timing and activation of genes that may be key to fetal development.
Most interestingly, the set of genes mutated in congenital heart disease unexpectedly overlapped with genes and pathways mutated in autism. These findings suggest there may be common pathways that underlie a wide range of common congenital diseases.
This is an important piece of the puzzle that gives us a clearer picture of the causes of congenital heart disease.
Source: HealthDay News
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