Dr. Güneş ÖZHAN, her PhD student Uğur BORA and their collaborators from the Royan Institute have recently published a work on MYH7 gene.
Left Ventricular Non-Compaction (LVNC) is a type of cardiomyopathy that mostly occurs due to mutations resulting in thickening of the ventricular wall and cardiac contractile dysfunction. In this study, the researchers identified a new LVNC-associated heterozygous missense mutation in the MYH7 gene by whole-exome sequencing of three members of a family that exhibit LVNC phenotype. Furthermore, by using CRISPR/Cas9 genome editing technology, they generated a MYH7 knockout in zebrafish that had cardiovascular malformation and impaired contractile function.
This study is a prominent example of exploitation of zebrafish as a robust model for the study of genetic disorders.
The study was published in “Frontiers in Cardiovascular Medicine” journal.