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https://www.ias.ac.in/article/fulltext/jgen/099/0066

ventricular arrhythmia; Brugada syndrome; mitochondrial DNA; single-nucleotide polymorphism.

Brugada syndrome (BrS) is a rare genetic arrhythmic disorder with a complex model of transmission. At least 20 different genes have been identified as BrS-causal or susceptibility genes. Of these, SCN5A is the most frequently mutated. Coregulation of different mutations or genetic variants, including mitochondrial DNA (mtDNA), may contribute to the clinical phenotype of the disease. In thepresent study, we analysed the mitochondrial genome of a symptomatic BrS type 1 patient to investigate a possible mitochondrial involvement recently found in the arrhytmogenic diseases. No pathogenic mutation was identified; however, a high number of singlenucleotide polymorphisms were found (n=21) and some of them were already been reported in molecular autopsy case for sudden death.The results reported here further support our hypothesis on the potential role of mtDNA polymorphisms in mitochondrial dysfunction, which may represent a risk factor for arrhythmogenic disease.

EMANUELA POLIDORI¹ LAURA STOCCHI^{2 3} DOMENICO POTENZA⁴ LUIGI CUCCHIARINI¹ VILBERTO STOCCHI¹ LUCIA POTENZA¹

1. Department of Biomolecular Sciences, University of Urbino Carlo Bo, 61029 Urbino, Italy
2. Department of Biomedicine and Prevention, University of Tor Vergata, 00133 Rome, Italy
3. Pathophysiology of Reproduction, U.O.C., IVF Unit, Azienda Ospedaliera Ospedali Riuniti Marche Nord, 61121 Pesaro, Italy
4. Complex Operative Unit of Cardiology (UOC), IRCCS ‘Casa Sollievo della Sofferenza’, 71013 San Giovanni Rotondo, Italy

Published

4 August 2020

Manuscript received

26 January 2020

Manuscript revised

24 April 2020

Accepted

4 June 2020