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Article

Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the KCNJ2 Mutant Allele.

International journal of molecular sciences - 12 Dec 2024

Wilders Ronald

Abstract excerpt

Short QT syndrome type 3 (SQTS3 or SQT3), which is associated with life-threatening cardiac arrhythmias, is caused by heterozygous gain-of-function mutations in the KCNJ2 gene. This gene encodes the pore-forming α-subunit of the ion channel that carries the cardiac inward rectifier potassium current (IK1). These gain-of-function mutations either increase the amplitude of IK1 or attenuate its rectification. The...

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PMID: 39769116
DOI: 10.3390/ijms252413351

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