E ISSN: 2583-049X

International Journal of Advanced Multidisciplinary Research and Studies

Volume 3, Issue 6, 2023

Pathogenic Variants in the TJP1 Gene are Associated with Cardiac Phenotypes in Endurance Athletes from Oaxaca, México

Author(s): Hector Aguilar-Aguilar, Luis Abel Solano Santiago, Elva Montero-Toledo, Adolfo Demetrio Gomez-Hernandez, Luis Abel Solano-Ramirez, Luis Alberto Hernandez-Osorio, Sergio Alberto Ramirez-Garcia


Background: The sudden cardiac arrest of an apparently healthy athlete is an uncommon but feared event with an unclear incidence in athlete depending on genetic diversity from population and study methodology from screening cardiac disease. In young athletes have an undiagnosed arrhythmogenic cardiomyopathy and other arrhythmias causes of sudden cardiac death. TJP1 gene is a new candidate gene from association studies in these cardiovascular disease. Encodes for the thigh junction’s proteins type 1, which is part from the myocyte lateral membrane between cell-cell due to development the desmosome.

Aim: Was scan detect structural and cardiovascular disease in asymptomatic high performance young’s athletes, determinate the association with the genetic variants in the TJP1 gene.

Materials and methods: Male 167 asymptomatic high-performance athletes usuries come to our center every year for their check-up, were enrolled. We obtained electrocardiography (ECG) from all study participants.

Results: The five probands with the sustained ventricular tachycardia were heterozygote carrier’s for the variant rs1038306187 locus by the domain guanylate kinase. 3 left bundle branch block (LBBB), right bundle branch block in two cases, was positive from the gene variation. 986C>T, p.(S329L). The probands with arrhythmogenic dysplasia were carrier from the variant c.793C>T p.(R265W).

Conclusion: The genetic variants in the TJP1 explain the 37.7% cardiovascular problems in asymptomatic endurance athletes, being the SNV rs781148827 the variant more frequently, in the Mexican population.

Keywords: Arrhythmogenic Dysplasia, Right Bundle Branch Block, Ventricular Tachycardia, Young Athletes

Pages: 1326-1328

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