Analysis of selected genes associated with cardiomyopathy by next‐generation sequencing

Szabadosová, Viktória; Boroňová, Iveta; Ferenc, Peter; Tóthová, Iveta; Bernasovská, Jarmila; Zigová, Michaela; Kmeč, Ján; Bernasovský, Ivan

doi:10.1002/jcla.22254

Cited by 12 publications

(12 citation statements)

References 40 publications

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“…Cardiac disorders: Low-density lipoprotein receptor-related protein 8 (LALLLL), alterations of which can lead to myocardial infarction [ 37 ]; Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (TLTLAV) is implicated in susceptibility to the long QT syndrome [ 38 ]; Presenilin-2 (TLACFV) relates to dilated cardiomyopathy and heart failure [ 39 ]; Nesprin-1 (LLSAGI) is involved in dilated or hypertrophic cardiomyopathy [ 40 , 41 ]: Nuclear receptor coactivator 6 (PSLATV) can cause dilated cardiomyopathy [ 42 ]; Latent-transforming growth factor beta-binding protein 3 (LALLLL) can associate with skin thickening, cardiac valvular thickening, tracheal stenosis, and respiratory insufficiency [ 43 ]. …”

Section: Resultsmentioning

confidence: 99%

From Anti-SARS-CoV-2 Immune Responses to COVID-19 via Molecular Mimicry

Kanduc

2020

Antibodies

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Aim: To define the autoimmune potential of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection. Methods: Experimentally validated epitopes cataloged at the Immune Epitope DataBase (IEDB) and present in SARS-CoV-2 were analyzed for peptide sharing with the human proteome. Results: Immunoreactive epitopes present in SARS-CoV-2 were mostly composed of peptide sequences present in human proteins that—when altered, mutated, deficient or, however, improperly functioning—may associate with a wide range of disorders, from respiratory distress to multiple organ failure. Conclusions: This study represents a starting point or hint for future scientific–clinical investigations and suggests a range of possible protein targets of autoimmunity in SARS-CoV-2 infection. From an experimental perspective, the results warrant the testing of patients’ sera for autoantibodies against these protein targets. Clinically, the results warrant a stringent surveillance on the future pathologic sequelae of the current SARS-CoV-2 pandemic.

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Section: Resultsmentioning

confidence: 99%

From Anti-SARS-CoV-2 Immune Responses to COVID-19 via Molecular Mimicry

Kanduc

2020

Antibodies

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“…Similarly, our proteomics networking functional analysis showed marked increase in actin cytoskeleton and intracellular trafficking components that could be a reflection of compensatory effects on downregulation of VPS26a that plays a key role in endosomal cargo sorting [23, 29]. Plectin gene (Plec1) polymorphism is known to be associated to hypertrophic cardiomyopathy in humans [48] but its role in cardiomyocytes still needs to be determined. Plec1 mutations are known to underlie muscular dystrophy due to altered interactions with mutant PLEC1 protein to cytoskeleton [42].…”

Section: Discussionmentioning

confidence: 99%

“…Plec1 mutations are known to underlie muscular dystrophy due to altered interactions with mutant PLEC1 protein to cytoskeleton [42]. However, despite the loss of PLEC1 protein in miRNA-7 Tg mice, there was no disorganization of the sarcomeres and the mice underwent cardiac dilation instead of hypertrophic myopathy observed Plec1 mutations [48].…”

Section: Discussionmentioning

confidence: 99%

Cardiac overexpression of microRNA-7 is associated with adverse cardiac remodeling

Gupta

Sahu

Wang

et al. 2020

Preprint

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Role of microRNA-7 (miRNA-7) in targeting Epidermal growth factor receptor (EGFR/ERBB) family is known in dividing cancer cells while less is known about its role in terminally differentiated cardiac cells. We generated transgenic (Tg) mice with cardiomyocyte-specific overexpression of miRNA-7 to determine its role in regulating cardiac function. Despite similar survival, expression of miRNA-7 results in cardiac dilation as measured by echocardiography, instead of age-based cardiac hypertrophy observed in littermate controls. In contrast to the classical adaptive hypertrophy in response to TAC, miRNA-7 Tg mice directly undergo cardiac dilation post-TAC that is associated with increased fibrosis. Interestingly, significant loss in ERBB2 expression was observed in cardiomyocytes with no changes in ERBB1 (EGFR). Gene ontology and cellular component analysis using the cardiac proteomics data showed significant reduction in mitochondrial membrane integrity reflecting the differential enrichment/loss of proteins in miRNA-7 Tg mice compared to littermate controls. Consistently, electron microscopy showed that miRNA-7 Tg hearts had disorganized and rounded mitochondrial morphology indicating mitochondrial dysfunction. These findings show that expression of miRNA-7 uniquely results in cardiac dilation instead of adaptive hypertrophic response to cardiac stress providing insights on adverse remodeling in physiology and pathology.

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“…Cavin-1 mutations also are associated with congenital general lipodystrophy type 4 (Shastry et al, 2010;Jelani et al, 2015;Patni et al, 2019). Cavin-4 (MURC) has been associated with dilated cardiomyopathy (Rodriguez G. et al, 2011;Szabadosova et al, 2018).…”

Section: Ultrastructure Of Caveolae Related To Caveolins and Cavinsmentioning

confidence: 99%

“…The assumption has been that attractive forces originating from the energy of membrane deformation generated by the bulbs are responsible for this feature. The mechano-protective role of these structures (Szabadosova et al, 2018) putatively relays on the ability to disintegrate upon cell stretching (Golani et al, 2019). Formation of clusters of caveole is promoted by caveolar neck proteins EDH 1, 2, and 4, which partially compensate for each other to protect the cell against mechanical stress (Yeow et al, 2017).…”

Section: Ultrastructure Of Caveolae Related To Caveolins and Cavinsmentioning

confidence: 99%

Caveolae as Potential Hijackable Gates in Cell Communication

Dudău

Codrici

Tănase

et al. 2020

Front. Cell Dev. Biol.

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Caveolae are membrane microdomains described in many cell types involved in endocytocis, transcytosis, cell signaling, mechanotransduction, and aging. They are found at the interface with the extracellular environment and are structured by caveolin and cavin proteins. Caveolae and caveolins mediate transduction of chemical messages via signaling pathways, as well as non-chemical messages, such as stretching or shear stress. Various pathogens or signals can hijack these gates, leading to infectious, oncogenic and even caveolin-related diseases named caveolinopathies. By contrast, preclinical and clinical research have fallen behind in their attempts to hijack caveolae and caveolins for therapeutic purposes. Caveolae involvement in human disease is not yet fully explored or understood and, of all their scaffold proteins, only caveolin-1 is being considered in clinical trials as a possible biomarker of disease. This review briefly summarizes current knowledge about caveolae cell signaling and raises the hypothesis whether these microdomains could serve as hijackable "gatekeepers" or "gateways" in cell communication. Furthermore, because cell signaling is one of the most dynamic domains in translating data from basic to clinical research, we pay special attention to translation of caveolae, caveolin, and cavin research into clinical practice.

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Analysis of selected genes associated with cardiomyopathy by next‐generation sequencing

Cited by 12 publications

References 40 publications

From Anti-SARS-CoV-2 Immune Responses to COVID-19 via Molecular Mimicry

From Anti-SARS-CoV-2 Immune Responses to COVID-19 via Molecular Mimicry

Cardiac overexpression of microRNA-7 is associated with adverse cardiac remodeling

Caveolae as Potential Hijackable Gates in Cell Communication

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