Medical Research Council - London Institute of Medical Sciences

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Gene of Hearts

Gene called LRP2 implicated in congenital heart disease

04 December 2020

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

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