A novel mutation in GPD1‑L associated with early repolarization syndrome via modulation of cardiomyocyte fast sodium currents

• Published in: International journal of molecular medicine Vol. 45; no. 3; pp. 947 - 955
• Main Authors: Fan, Jun, Ji, Cheng‑Cheng, Cheng, Yun‑Jiu, Yao, Hao, Chen, Xu‑Miao, Zheng, Zi‑Heng, Wu, Su‑Hua
• Format: Journal Article
• Language: English
• Published: Greece Spandidos Publications 01.03.2020; Spandidos Publications UK Ltd
• Subjects: Adult; Aged; Analysis; Arrhythmias, Cardiac - genetics; Cardiomyocytes; Cell membranes; Computational biology; Death, Sudden, Cardiac; DNA sequencing; Electrocardiography; Female; Gene mutation; Genes; Genetic aspects; Genomes; Genomics; Glycerol; Glycerolphosphate Dehydrogenase - genetics; Glycerolphosphate Dehydrogenase - metabolism; HEK293 Cells; Humans; Infection; Male; Membranes; Microscopy; Mutagenesis; Mutation; Mutation - genetics; Myocytes, Cardiac - metabolism; NAV1.5 Voltage-Gated Sodium Channel - genetics; NAV1.5 Voltage-Gated Sodium Channel - metabolism; Phosphates; Proteins; Scientific equipment industry; Software; Values; Whole genome sequencing; United States

Early repolarization syndrome (ERS) is associated with genetic mutations, but the role of the glycerol‑3‑phosphate dehydrogenase 1‑like (GPD1‑L) mutation remains unclear. The aim of the present study was to investigate the role and potential underlying mechanism of GPD1‑L mutation P112L in the patho...