This Friday 18/10/2024  Ms. Alexandra Pérez Serra has read her doctoral thesis entitled: “Identificación y caracterización de nuevos biomarcadores para el diagnóstico de la miocardiopatía dilatada." directed by Dra. Rocío Toro,  Dr. Òscar Campuzano and Dr. Ramon Brugada.

ABSTRACT

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, identifying biomarkers that can distinguish patients who will not tolerate statins is critical, and miRNAs are promising candidates. Therefore, in the first study, we identified a set of five miRNAs with enough discriminative power to isolate statin-intolerant patients from those who tolerate them well. miRNAs play a key role in cellular biological processes in cardiomyopathies. Cellular oxidative stress is related to the development of cardiovascular diseases, including ischemic dilated cardiomyopathy. miR-16-5p has been associated with endoplasmic reticulum stress and oxidative stress in cardiomyocytes, suggesting a cardioprotective effect. In the second study, we confirmed ATF6 as a target gene of miR-16-5p in a human cardiac cell line and demonstrated its role in protecting the heart against endoplasmic reticulum stress and oxidative stress. Dilated cardiomyopathy is a heterogeneous condition that can cause heart failure and malignant arrhythmias, with a significant proportion of cases being of genetic origin. A comprehensive update of variants of uncertain significance in patients with dilated cardiomyopathy revealed the reclassification of 12% of the variants, highlighting the importance of continuous interpretation of genetic variants in this disease. This aids in obtaining a definitive genetic diagnosis and helps identify family members who carry the same genetic defect and are therefore at risk of developing the disease.