Novel genes with a role in deadly heart defects identified

Genetics is thought to be a major driver of HLHS, but the specific genes involved have remained a mystery. To look for genes that contribute to HLHS, the researchers sequenced the genomes of 183 people with HLHS and their parents, including a family in which the parents were genetically related to each other. Focusing on this family helped the researchers narrow their search to a few key genes.

To test whether the genes they identified could be contributing to HLHS, the researchers performed genetic experiments on fruit fly hearts that are built with genes similar to those found in human hearts. They found that blocking the activity of these genes in flies interfered with their heart’s ability to contract, leading to significant heart defects.

Reference: Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity, eLife, DOI 10.7554/eLife.83385.