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A new hypothesis to explain disease dominance.

Trends Genet

January 2025

Department of Developmental Genetics, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Hessen, 61231, Germany; German Centre for Cardiovascular Research (DZHK), Partner Site Rhine-Main, Bad Nauheim, Hessen, 61231, Germany; Excellence Cluster Cardio-Pulmonary Institute (CPI), Bad Nauheim, Frankfurt, Giessen, Germany. Electronic address:

The onset and progression of dominant diseases are thought to result from haploinsufficiency or dominant negative effects. Here, we propose transcriptional adaptation (TA), a newly identified response to mRNA decay, as an additional cause of some dominant diseases. TA modulates the expression of so-called adapting genes, likely via mRNA decay products, resulting in genetic compensation or a worsening of the phenotype.

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Hot Phases Cardiomyopathy: Pathophysiology, Diagnostic Challenges, and Emerging Therapies.

Curr Cardiol Rep

January 2025

Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), European Reference Network for Rare, University of Trieste, Via P. Valdoni 7, 34100, Trieste, Italy.

Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.

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Objective: The study objective was to assess longitudinal postoperative health-related quality of life among patients with adult congenital heart disease facilitated by a novel electronic medical record-based patient-reported outcomes follow-up platform.

Methods: From January 2022 to October 2023, 559 patients with adult congenital heart disease underwent cardiac surgery; 491 (88%) completed a 23-element health-related quality of life questionnaire covering 3 domains (physical, mental, and social) yielding 911 assessments. Automated questionnaires via electronic medical record were sent at 7 days preoperatively and postoperatively at 1, 3, 6, and 12 months.

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Background: Cardiac fibrosis plays a critical role in the progression of various forms of heart disease, significantly increasing the risk of sudden cardiac death. However, currently, there are no therapeutic strategies available to prevent the onset of cardiac fibrosis.

Methods And Results: Here, biomimetic ATP-responsive nanozymes based on genetically engineered cell membranes are adapted to specifically recognize activated cardiac fibroblasts (CFs) for the treatment of cardiac fibrosis.

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COA5 has an essential role in the early stage of mitochondrial complex IV assembly.

Life Sci Alliance

March 2025

https://ror.org/01kj2bm70 Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK

Pathogenic variants in cytochrome oxidase assembly factor 5 (COA5), a proposed complex IV (CIV) assembly factor, have been shown to cause clinical mitochondrial disease with two siblings affected by neonatal hypertrophic cardiomyopathy manifesting a rare, homozygous missense variant (NM_001008215.3: c.157G>C, p.

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