hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities
- Veerman, Christiaan C.
- Mengarelli, Isabella
- Guan, Kaomei
- Stauske, Michael
- Barc, Julien
- Tan, Hanno L.
- Wilde, Arthur A. M.
- Verkerk, Arie O.
- Bezzina, Connie R.
DOIAbstract
Brugada syndrome (BrS) is a rare cardiac rhythm disorder associated with sudden cardiac death. Mutations in the sodium channel gene SCN5A are found in similar to 20% of cases while mutations in other genes collectively account for <5%. In the remaining patients the genetic defect and the underlying pathogenic mechanism remain obscure. To provide insight into the mechanism of BrS in individuals without identified mutations, we here studied electrophysiological properties of cardiomyocytes (CMs) generated from human induced pluripotent stem cells (hiPSCs) from 3 BrS patients who tested negative for mutations in the known BrS-associated genes. Patch clamp studies revealed no differences in sodium current (I-Na) in hiPSC-CMs from the 3 BrS pati...
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