December 11, 2013PLoS ONEOpen Access

The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Q: What is the clinical evidence from this study?

Study design: Other. Population: Long QT Syndrome Type 3 (LQTS-3) (n=2). Intervention: SCN5A mutations (p.V240M and p.R535Q) vs. Control ES and iPS cell-derived cardiomyocytes. Primary outcome: Sodium current properties (time to peak and time to 90% inactivation).

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Key result

Cardiomyocytes derived from induced pluripotent stem cells of two LQTS-3 patients demonstrated significantly longer time to peak and time to 90% inactivation of the Na+ channel compared to controls.

Authors

AFAzra FatimaUniversity of Cologne SDSven DittmannUniversity Hospital Münster GXGuoxing XuFujian Medical University

Discussion

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Implication

Supports iPSC models for LQTS-3 research; leaves open clinical translation pending validation.

PICO

Population

2 adult patients (1 female, 1 male) diagnosed with Long QT Syndrome Type 3 carrying SCN5A mutations, from whom skin biopsies were obtained to generate iPS cells.

Exposure / Comparator

SCN5A mutations (p.V240M and p.R535Q) vs Control ES and iPS cell-derived cardiomyocytes

Primary Outcome

Sodium current properties (time to peak and time to 90% inactivation)

Limitations

High cell-to-cell and cell line-to-cell line variability in electrophysiological parameters
Immaturity of iPS-derived cardiomyocytes
Small sample size of only two patients

Cite This Study

Fatima et al. (2013) studied Long QT Syndrome Type 3 (LQTS-3) (n=2). SCN5A mutations (p.V240M and p.R535Q) vs. Control ES and iPS cell-derived cardiomyocytes was evaluated on Sodium current properties (time to peak and time to 90% inactivation). Cardiomyocytes derived from induced pluripotent stem cells of two LQTS-3 patients demonstrated significantly longer time to peak and time to 90% inactivation of the Na+ channel compared to controls.

synapsesocial.com/papers/6a7dc14ae5379bb2b27d8b4f https://doi.org/10.1371/journal.pone.0083005

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The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Discussion

Member takes

Implication

PICO

Limitations

Cite This Study

The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Discussion

Member takes

Implication

PICO

Limitations

Cite This Study

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Also Consider