☆ 4.7 Review

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations

BIOMEDICINE & PHARMACOTHERAPY (2023)

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Yubi Lin et al.

Summary: Arrhythmogenic cardiomyopathy (ACM) is a fatal heart disease characterized by fibroadipocytic replacement of cardiac myocytes, resulting in cardiac lipid accumulation. The accumulation of fat is caused by impaired fatty acid oxidation, which is related to the decline of mTOR signaling. Reactivation of PPARa can alleviate lipid accumulation and restore cardiac function, suggesting it as a potential target for curative treatment of ACM.

ACTA PHARMACEUTICA SINICA B (2023)

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Review Cardiac & Cardiovascular Systems

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Mark Pitsch et al.

Summary: This study investigated the temporal and spatial expression patterns of autophagy and ER/SR stress indicators in murine AC models. The findings suggest that locally altered autophagy and enhanced ER/SR stress play a role in AC pathogenesis both at the onset and during chronic progression.

CELLS (2022)

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Review Cardiac & Cardiovascular Systems

Translation of New and Emerging Therapies for Genetic Cardiomyopathies

Adam S. Helms et al.

Summary: The primary cause of cardiomyopathies is now known to be genetic, leading to new approaches for treatment based on the underlying molecular cause. This review provides a genetic and etiological context for the traditional clinical classifications of cardiomyopathy and discusses emerging treatments that target specific molecular subtypes. The advantages and disadvantages of these approaches are described, and areas with high potential for short- and long-term efficacy are identified.

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Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

Takahiko Nishiyama et al.

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SCIENCE TRANSLATIONAL MEDICINE (2022)

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SGLT2 inhibitor dapagliflozin attenuates cardiac fibrosis and inflammation by reverting the HIF-2α signaling pathway in arrhythmogenic cardiomyopathy

Zhe Yang et al.

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Defective Desmosomal Adhesion Causes Arrhythmogenic Cardiomyopathy by Involving an Integrin-αVβ6/TGF-β Signaling Cascade

Camilla Schinner et al.

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Inflammation and Immune Response in Arrhythmogenic Cardiomyopathy: State-of-the-Art Review

Babken Asatryan et al.

Summary: Arrhythmogenic cardiomyopathy (ACM) is primarily caused by genetic defects in proteins of the cardiac intercalated disc, with wide phenotype variability. Inflammation and immune responses are considered aggravators of cardiac myocyte damage, and play a role in the pathogenesis of ACM.

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Article Biochemistry & Molecular Biology

Excess TGF-β1 Drives Cardiac Mesenchymal Stromal Cells to a Pro-Fibrotic Commitment in Arrhythmogenic Cardiomyopathy

Angela Serena Maione et al.

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Jun Ren et al.

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Exercise triggers CAPN1-mediated AIF truncation, inducing myocyte cell death in arrhythmogenic cardiomyopathy

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Phenotypic Recapitulation and Correction of Desmoglein-2-deficient Cardiomyopathy using Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

Mikio Shiba et al.

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Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy

K. E. Ng et al.

Summary: The study revealed that cardiac inflammation is a key early event leading to fibrosis in arrhythmogenic cardiomyopathy. Loss of desmoglein 2 in the young murine heart resulted in apoptosis and upregulation of inflammatory-associated pathways, suggesting an early immune response triggers tissue remodelling in the fibrotic heart. This analysis indicates that cardiac inflammation plays an important role in AC disease progression.

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Extracellular vesicles from immortalized cardiosphere-derived cells attenuate arrhythmogenic cardiomyopathy in desmoglein-2 mutant mice

Yen-Nien Lin et al.

Summary: The study demonstrated that extracellular vesicles secreted by cardiosphere-derived cells exerted significant effects in improving cardiac function, reducing cardiac inflammation, and suppressing arrhythmias in an arrhythmogenic cardiomyopathy murine model.

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Summary: Myocardial fibrosis, characterized by the expansion of cardiac interstitium through deposition of extracellular matrix proteins, is a common pathophysiologic feature in various myocardial conditions. Activated fibroblasts and myofibroblasts play a central role in cardiac fibrosis, producing matrix proteins and triggering fibrogenic signalling cascades in response to stress. Immune cells, vascular cells, and cardiomyocytes can also contribute to fibrosis, while fibrotic changes may disrupt cardiac function and play a role in arrhythmogenesis.

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Crosstalk between coagulation and complement activation promotes cardiac dysfunction in arrhythmogenic right ventricular cardiomyopathy

Jie Ren et al.

Summary: The study found activation of the complement system in the myocardium of ARVC patients, with autoantibodies against myocardial proteins possibly contributing to this mechanism. Crosstalk between the complement and coagulation systems exacerbated myocardial injury in ARVC mice, which was reduced by using the thrombin inhibitor lepirudin. Patients showed significantly elevated plasma levels of sC5b9 and thrombin, which were correlated with all-cause mortality.

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Article Cell Biology

Elevated plasma β-hydroxybutyrate predicts adverse outcomes and disease progression in patients with arrhythmogenic cardiomyopathy

Jiang-Ping Song et al.

SCIENCE TRANSLATIONAL MEDICINE (2020)

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Review Cardiac & Cardiovascular Systems

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Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History

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Editorial Material Cardiac & Cardiovascular Systems

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A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype

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In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns

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Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles

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Nuclear Plakoglobin Is Essential for Differentiation of Cardiac Progenitor Cells to Adipocytes in Arrhythmogenic Right Ventricular Cardiomyopathy

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