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Junk Heart

Gene mutation with a role in cardiomyopathy identified

09 July 2021

Junk Heart

Our cells demand peak performance. Usually when proteins wear out, or suffer damage, they’re broken up and their parts reused. This vital recycling keeps demanding tissues like muscles working efficiently. Compared to the slice of healthy mouse’s heart on the left, disruption to recycling leaves the second mouse’s heart strewn with clumped-together chemicals (highlighted in red on the right). Mutation in a single gene, BAG3, allows harmful 'junk' proteins to build up – the heart gradually becomes less efficient; eventually its cells will die. While such mutations are rare, human sufferers often develop severe childhood cardiomyopathy and rarely live beyond 20 years of age. As with many rare conditions, research funding is often focussed elsewhere, but here a team of scientists explores potential treatments, including gene therapies, that might one day help with other rare disorders.

Written by John Ankers

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BPoD stands for Biomedical Picture of the Day. Managed by the MRC Laboratory of Medical Sciences until Jul 2023, it is now run independently by a dedicated team of scientists and writers. The website aims to engage everyone, young and old, in the wonders of biology, and its influence on medicine. The ever-growing archive of more than 4000 research images documents over a decade of progress. Explore the collection and see what you discover. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.

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