July 1, 2018Cell ReportsOpen Access

Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block

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Population

In vitro model studying the TRPM4 A432T mutation linked to human cardiac conduction disturbance

Comparison

TRPM4 A432T mutation and rational mutagenesis at… vs Wild-type TRPM4

Design

Preclinical

Authors

WXWenying XianEvotec (Germany)XHXin HuiAero Engine Corporation of China (China)XTXiao Yu TianCollege of the Holy Cross

Discussion

Member takes

Implication

Informs variant interpretation in conduction disorders; extends channel kinetics insights but leaves open clinical translation.

Structured PICO

Population

In vitro model studying the TRPM4 A432T mutation linked to human cardiac conduction disturbance

Intervention

TRPM4 A432T mutation and rational mutagenesis at position 432

Comparator

Wild-type TRPM4

Outcome

Electrophysiological properties including membrane current, plasma membrane expression, and deactivation kineticssurrogate

The TRPM4 A432T mutation causes a gain of function through slower deactivation driven by amino acid bulkiness, providing a mechanistic basis for its role in human cardiac conduction block.

Cite This Study

Xian et al. (2018) studied this question.

synapsesocial.com/papers/6a7ab28f8d250a4360f42bb0 https://doi.org/10.1016/j.celrep.2018.06.034

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Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Aberrant Deactivation-Induced Gain of Function in TRPM4 Mutant Is Associated with Human Cardiac Conduction Block

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider