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Rare Pathogenic Variants in Mitochondrial and Inflammation-Associated Genes May Lead to Inflammatory Cardiomyopathy in Chagas Disease.

Maryem OuarhacheSandrine MarquetAmanda Farage FradeAriela Mota FerreiraBarbara IanniRafael Ribeiro AlmeidaJoao Paulo Silva NunesLudmila Rodrigues Pinto FerreiraVagner Oliveira-Carvalho RigaudDarlan CândidoCharles MadyRicardo Costa Fernandes ZanirattoPaula BuckMagali TorresFrederic GallardoPauline AndrieuxSergio BydlowskyDebora LevyLaurent AbelClareci Silva CardosoOmar Ribeiro Santos-JuniorLea Campos OliveiraClaudia Di Lorenzo OliveiraMaria Do Carmo NunesAurelie CobatJorge KalilAntonio Luiz RibeiroEster Cerdeira SabinoEdécio Cunha-NetoChristophe Chevillard
Published in: Journal of clinical immunology (2021)
Mitochondrial dysfunction and inflammation may be genetically determined in CCC, driven by rare genetic variants. We hypothesize that CCC-linked genetic variants increase mitochondrial susceptibility to IFN-γ-induced damage in the myocardium, leading to the cardiomyopathy phenotype in Chagas disease. This mechanism may also be operative in other inflammatory cardiomyopathies.
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