Mitochondrial heteroplasmy as a marker for premature coronary artery disease: analysis of the poly-C tract of the control region sequence

• Published in: European heart journal Vol. 44; no. Supplement_2
• Main Authors: Gonzalez Urbistondo, F, Aparicio-Gavilanes, A, Gomez, J, Alvarez-Velasco, R, Pascual, I, Avanzas, P, Alen, A, Vazquez-Coto, M, Gonzalez-Fernandez, M, Garcia-Largo, C, Cuesta-Llavona, E, Moris De La Tassa, C, Eliecer, C, Lorca, R
• Format: Journal Article
• Language: English
• Published: 09-11-2023
• ISSN: 0195-668X; 1522-9645
• DOI: 10.1093/eurheartj/ehad655.3087

Mitochondrial DNA (mtDNA) differs from the nuclear genome in many aspects: a maternal inheritance pattern, being more prone to acquire somatic novo mutations, accumulative with age; and the possible coexistence of different mtDNA alleles (heteroplasmy). Mitochondria are key cellular organelles responsible for energy production, involved in complex mechanisms, including atherosclerosis. In this scenario, we aimed to evaluate mtDNA variants that could be associated with premature cardiovascular disease. We evaluated 188 consecutive patients presenting with premature myocardial infarction with ST elevation (STEMI) confirmed by coronary angiogram. mtDNA polymorphisms and clinical data were evaluated and compared with 271 individuals from the same population (control group). Tobacco consumption (80.85% vs 21.21%, p<0.01) and dyslipidemia (38.83% vs 28.41%, p=0.02) were significant more frequent among STEMI patients. Besides, C16223T mtDNA mutation and poly-C heteroplasmy were significantly more frequent among premature STEMI cases than in controls. The OR associated C16223T mtDNA mutation with an increased presence of cardiovascular risk factors. Our data suggest that mtDNA C16223T mutation and poly-C heteroplasmy may be associated with unstable atherosclerosis disease. Moreover, the presence of cardiovascular risk factors (CVRFs) was associated to C16223T mtDNA mutation, with a cumulative effect. Protective mitochondrial pathways are potential therapeutic targets. Thus, preventing exposure to the damaging mechanisms associated to CVRFs is of the utmost importancemtDNA sanger analysisBaseline characteristics.