Researchers have made significant progress in understanding the complex cardiac condition known as hypoplastic left heart syndrome (HLHS). By studying patients and their genes, scientists have identified new genes linked to HLHS. The study, published in the journal eLife, sheds light on the biology of this life-threatening condition, bringing hope for potential prevention and improved treatment options in the future.
HLHS affects new-borns, resulting in underdeveloped left ventricles that cannot efficiently pump oxygenated blood to the body. It is considered rare but perilous, and without multiple open-heart procedures, it is almost always fatal. Although genetics is believed to be a key factor in HLHS, the specific genes involved were previously unknown.
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“Every case of HLHS is unique because there are many different things that can go wrong during the early development of the heart,” stated senior author Rolf Bodmer, PhD, director of the Center for Genetic Disorders and Aging Research at Sanford Burnham Prebys
Through analysing the genomes of 183 HLHS patients and their parents, researchers narrowed down their search to several significant genes, with a unique focus on a family genetically linked to each other. This family’s genetic makeup provided an opportunity to identify new genes contributing to HLHS, which may not be as apparent in other cases.
“We inherit two different variants of each gene, one from each parent,” stated Georg Vogler, Ph.D., a research assistant professor at Sanford Burnham Prebys and co-senior author of the study. He added, “If both parents pass down a gene variant that can cause problems, then the effect of that gene variant is accentuated in the child.”
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To test the genes’ impact on HLHS, genetic experiments were conducted on fruit fly hearts that are built with genes resembling those found in human hearts. Blocking the activity of these genes in the flies led to significant heart defects, highlighting their potential role in HLHS, reported ANI.
Bodmer said that HLHS is likely influenced by multiple genetic and environmental factors, this study’s discoveries provide crucial insights into the condition’s underlying biology. Understanding the genetic basis of HLHS offers the potential for better treatments and preventive measures in the future.
(With inputs from ANI)
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Updated: 18 Jul 2023, 12:31 PM IST
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