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.
Highlights
Specialty section: This article was submitted to Striated Muscle Physiology, a section of the journal Frontiers in Physiology
It has been over 35 years since the first report of a genetic linkage between a sarcomere protein mutation with a disease phenotype (Geisterfer-Lowrance et al, 1990)
Since well over 1000 genetic variants of sarcomere proteins have been reported as associated with diseases such as hypertrophic, dilated, or restrictive cardiomyopathy, though many fewer have been confirmed as having causative roles (Seidman and Seidman, 2011; Haas et al, 2015)
Summary
Specialty section: This article was submitted to Striated Muscle Physiology, a section of the journal Frontiers in Physiology. 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.
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