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August 27, 2015Science

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

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Population

Human induced pluripotent stem (iPS) cell-derived cardiac microtissues and cardiomyocytes

Design

Preclinical

Authors

JHJ. Travis HinsonACAnant ChopraNNNavid A. Nafissi

Discussion

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Overview

No immediate clinical implications; leaves open whether titin-targeted interventions will prove effective in human dilated cardiomyopathy.

Structured PICO

P
Population
Human induced pluripotent stem (iPS) cell-derived cardiac microtissues and cardiomyocytes
I
Intervention
Titin gene variants (TTN-truncating variants and missense mutations)
O
Outcome
Pathogenicity of titin gene variants, including contractile performance, sarcomere insufficiency, responses to mechanical and β-adrenergic stress, and cell signaling activationsurrogate

Titin mutations cause dilated cardiomyopathy by disrupting critical linkages between sarcomerogenesis and adaptive remodeling, leading to sarcomere insufficiency.

Cite This Study

Hinson et al. (2015) studied this question.

synapsesocial.com/papers/6a00fcf04716aad0cc85e411https://doi.org/10.1126/science.aaa5458
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