Identificación y caracterización de nuevos biomarcadores para el diagnóstico de la miocardiopatía dilatada

ENG- Atherosclerotic cardiovascular diseases are efficiently treated with statins. These medications can cause unwanted muscle problems in some patients, leading them to discontinue treatment. In this context, the identification of biomarkers that distinguish patients who will not tolerate statins is critical, and miRNAs are promising candidates. Thus, in the first work, we identified a set of five miRNAs with sufficient discriminative power to isolate statin-intolerant patients from those who tolerate them adequately. Cellular oxidative stress is related to the development of cardiovascular diseases, including ischemic dilated cardiomyopathy. The miR-16-5p has been associated with endoplasmic reticulum stress and oxidative stress in cardiomyocytes, suggesting a cardioprotective effect. In the second work, we confirmed ATF6 as a target gene of miR-16-5p in a human cardiac cell line, supporting its role in cardiac protection against endoplasmic reticulum stress and oxidative stress. Dilated cardiomyopathy is a heterogeneous entity that can cause heart failure and malignant arrhythmias, with a significant proportion of cases of genetic origin. A comprehensive update of genetically uncertain variants in patients with dilated cardiomyopathy revealed the reclassification of 12% of variants, underscoring the importance of continuous genetic variant interpretation in this disease, aiding to obtain a conclusive genetic diagnosis as well as in early identification of relatives carrying the genetic alteration and, therefore at risk of suffer the disease