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Updated: Mar 10, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Connecting Sarcomere Protein Mutations to Pathogenesis in Cardiomyopathies: The Development of "Disease in a Dish"
Rebecca Zaunbrecher1, Michael Regnier2
1Department of Bioengineering, University of Washington Seattle, WA, USA.
Abstract:
Recent technological and protocol developments have greatly increased the ability to utilize stem cells transformed into cardiomyocytes as models to study human heart muscle development and how this is affected by disease associated mutations in a variety of sarcomere proteins. In this perspective we provide an overview of these emerging technologies and how they are being used to create better models of "disease in a dish" for both research and screening assays. We also consider the value of these assays as models to explore the seminal processes in initiation of the disease development and the possibility of early interventions.
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