Publications by authors named "O Campuzano"
Article Synopsis
- Excess lipid buildup in the heart leads to lipotoxicity and cardiac issues, with PPARγ influencing key fatty acid metabolism pathways.
- Overexpressing PPARγ in heart cells causes dilated cardiomyopathy in mice, while miR-130b-3p is found to be downregulated in patients, highlighting a potential protective role.
- The study shows that when miR-130b-3p is increased in human cardiomyoblasts, it reduces the harmful effects of palmitate-induced stress by targeting and downregulating PPARγ, thus alleviating oxidative stress and cell apoptosis.
Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial to understand the disease etiology and allow for the early identification of relatives at risk; however, it requires an accurate interpretation of the data to achieve a clinically actionable outcome. This is particularly challenging for the large number of rare variants obtained by current high-throughput techniques, which are mostly classified as of unknown significance.
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- Genetic testing is crucial for diagnosing short QT syndrome, a rare inherited condition that leads to dangerous heart rhythms and is marked by short QT intervals on an ECG.
- Researchers reviewed and updated knowledge about 34 rare genetic variants linked to short QT syndrome, identifying only nine that definitively cause the condition.
- The variants were found in four main genes (KCNQ1, KCNH2, KCNJ2, SLC4A3), highlighting the importance of reanalyzing genetic data to improve patient care and early identification of at-risk individuals.
Article Synopsis
- - Cardiac channelopathies are inherited syndromes in children that can lead to serious heart issues like malignant arrhythmias and sudden cardiac death, often diagnosed through a 12-lead electrocardiogram.
- - Identifying these conditions early is important, especially since symptoms may only appear after triggers like exercise or emotions; complementary tests, including genetic analysis, can help diagnose and assess risks in affected families.
- - Advances in genetic testing and sequencing technologies are aiding in discovering new genetic causes and refining the interpretation of uncertain genetic variants, crucial for effective risk management in pediatric patients.
Arrhythmogenic cardiomyopathy is an inherited entity characterized by irregular cell-cell adhesion, cardiomyocyte death and fibro-fatty replacement of ventricular myocytes, leading to malignant ventricular arrythmias, contractile dysfunction and sudden cardiac death. Pathogenic variants in genes that encode desmosome are the predominant cause of arrhythmogenic cardiomyopathy. Moreover, signalling pathways such as Wnt/ß-catenin and transforming growth factor-β have been involved in the disease progression.
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