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April 11, 2018European Heart JournalOpen Access

The engineered R453C-βMHC-mutation triggered compensatory responses causing increased ATP production and αMHC to βMHC switching, and pharmacological rescue of arrhythmias was demonstrated.

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Population

Human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) modeling hypertrophic cardiomyopathy

Design

Preclinical

Authors

DMDiogo MosqueiraIMIngra MannhardtJBJamie R. Bhagwan

Discussion

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Overview

These mechanisms suggest arrhythmia targets in HCM models; leaves open clinical translation pending human studies.

Structured PICO

P
Population
Human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) modeling hypertrophic cardiomyopathy
I
Intervention
CRISPR/Cas9 editing to introduce the R453C-βMHC-mutation
O
Outcome
Cardiomyocyte functionality, including energy depletion, ATP production, αMHC to βMHC switching, and arrhythmiassurrogate

CRISPR/Cas9-engineered hPSC-CMs reveal that energy depletion, arrhythmias, and hypocontractility are key mechanisms and potential therapeutic targets in hypertrophic cardiomyopathy.

Cite This Study

Mosqueira et al. (2018) studied this question.

synapsesocial.com/papers/69bd604c331c354bb52ff524https://doi.org/10.1093/eurheartj/ehy249
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes2016 · 88 citations
  2. 2Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy2017 · 35 citations
  3. 3Functional Effects of the Hypertrophic Cardiomyopathy R403Q Mutation Are Different in an α- or β-Myosin Heavy Chain Backbone2008 · 93 citations
  4. 4The Hypertrophic Cardiomyopathy Myosin Mutation R453C Alters ATP Binding and Hydrolysis of Human Cardiac β-Myosin2013 · 61 citations
  5. 5Structural Implications of β‐Cardiac Myosin Heavy Chain Mutations in Human Disease2014 · 116 citations