Expressing a Giant....

A new study by CureHeart Researcher Yuri Kim working with CureHeart PIs Jonathan and Christine Seidman has recently been published in the Journal of Clinical Investigation. The work has looked at the gene encoding the giant molecule titin. This protein forms a filament across the muscle units (sarcomeres) and provides passive force that helps our hearts contract. When one copy of the gene encoding titin is mutated or deleted it causes the largest portion of familial dilated cardiomyopathy (DCM) globally. The study has functionally characterised a special non-coding DNA enhancer region at the start of the titin gene, to understand how the gene is regulated. The goal is to be able to use genome editing to manipulate the enhancer region of the gene, increasing expression from the healthy copy of the gene and compensating for the loss of expression from the mutant copy of the gene. This genetic treatment would provide a cure for large numbers of DCM patients in the future.