Gene of Hearts

Congenital heart diseases (CHDs) are one of the most common birth defects and some, such as hypoplastic left heart syndrome (HLHS), can be fatal if left untreated. The genetics behind HLHS isn’t well understood, so researchers analysed the genomes of three families with the disease. Ten possible genes were implicated in HLHS. Suppressing each gene in healthy human heart cells grown from stem cells as well as fruit fly and zebrafish hearts, revealed one gene as a front-runner – LRP2. Without normal levels of LRP2 protein, heart cells failed to mature properly and zebrafish hearts were smaller and abnormally shaped (pictured, right) compared to normal hearts (left), as revealed by fluorescence microscopy. What’s more, potentially damaging mutations in the LRP2 gene were then identified in heart cells grown from the stem cells of HLHS patients. This highlights how useful this approach can be in deciphering the genetics of CHDs.

Written by Lux Fatimathas

Lux Fatimathas

Writer

Having pursued science through a career in research, communications and publishing, she is currently a writer and editor for a healthcare marketing agency and also juggles freelance science writing.

• Image from work by Jeanne L Theis, Georg Vogler and Maria A Missinato, and colleagues
• Cardiovascular Genetics Research Laboratory, Rochester, NY, and Development, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in eLife, October 2020