Shillong, July 19: Researchers identify genes contributing to hypoplastic left heart syndrome (HLHS), a life-threatening heart disease occurring in infants.
HLHS affects the left side of the heart, hindering the pumping of oxygenated blood to the body.
IANS reported that the US Centers for Disease Control and Prevention estimates around 1,025 babies born with HLHS annually in the US, accounting for 2-4% of all congenital heart defects.
Genetics play a significant role in HLHS, but specific genes remained unknown until now.
The study, published in eLife, sheds light on the complex biology of the disease, offering potential future prevention or reduced complications.
Researchers sequenced genomes of 183 HLHS patients and identified key genes, further confirmed through genetic experiments on fruit flies.
Blocking these genes in flies led to heart contraction interference and significant heart defects, potentially providing insight into the disease’s mechanisms.