Differential Expression Profiles and Functional Prediction of Circular RNAs in Pediatric Dilated Cardiomyopathy

Sun, Wei; Han, Bo; Cai, Dongxiao; Wang, Jing; Jiang, Diandong; Jia, Honglei

doi:10.3389/fmolb.2020.600170

Cited by 3 publications

(3 citation statements)

References 36 publications

(19 reference statements)

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“…Recent studies have described several circRNA expression profiles in the DCM population compared to healthy patients. However, to date, it has not been studied among the different etiologies of DCM [ 26 , 27 ]. Hence, further analysis of circRNAs among DCM etiologies might provide early, precise characterization of the disease and lead to novel pathological information, beyond the traditional biomarkers.…”

Section: Discussionmentioning

confidence: 99%

Circulating circRNA as biomarkers for dilated cardiomyopathy etiology

et al. 2021

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Dilated cardiomyopathy (DCM) is the third most common cause of heart failure. The multidisciplinary nature of testing — involving genetics, imaging, or cardiovascular techniques — makes its diagnosis challenging. Novel and reliable biomarkers are needed for early identification and tailored personalized management. Peripheral circular RNAs (circRNAs), a leading research topic, remain mostly unexplored in DCM. We aimed to assess whether peripheral circRNAs are expressed differentially among etiology-based DCM. The study was based on a case–control multicentric study. We enrolled 130 subjects: healthy controls (n = 20), idiopathic DCM (n = 30), ischemic DCM (n = 20), and familial DCM patients which included pathogen variants of (i) LMNA gene (n = 30) and (ii) BCL2-associated athanogene 3 (BAG3) gene (n = 30). Differentially expressed circRNAs were analyzed in plasma samples by quantitative RT-PCR and correlated to relevant systolic and diastolic parameters. The pathophysiological implications were explored through bioinformatics tools. Four circRNAs were overexpressed compared to controls: hsa_circ_0003258, hsa_circ_0051238, and hsa_circ_0051239 in LMNA-related DCM and hsa_circ_0089762 in the ischemic DCM cohort. The obtained areas under the curve confirm the discriminative capacity of circRNAs. The circRNAs correlated with some diastolic and systolic echocardiographic parameters with notable diagnostic potential in DCM. Circulating circRNAs may be helpful for the etiology-based diagnosis of DCM as a non-invasive biomarker. Key messages The limitations of cardiac diagnostic imaging and the absence of a robust biomarker reveal the need for a diagnostic tool for dilated cardiomyopathy (DCM). The circular RNA (circRNA) expression pattern is paramount for categorizing the DCM etiologies. Our peripheral circRNAs fingerprint discriminates between various among etiology-based DCM and correlates with some echocardiographic parameters. We provide a potential non-invasive biomarker for the etiology-based diagnosis of LMNA-related DCM and ischemic DCM.

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Section: Discussionmentioning

confidence: 99%

Circulating circRNA as biomarkers for dilated cardiomyopathy etiology

et al. 2021

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“…They are associated with DCM according to KEGG. "Response to wounding," "inflammatory response," and "cytokine secretion" are the most enrichment GO biological processes of PDCMassociated circRNAs (Sun et al, 2020), and this is different from DCM adult patients.…”

Section: Circrnas In the Dcm Study Circrnas In The Dcm Patient Heartmentioning

confidence: 93%

“…In addition, Sun et al carried out a circRNA profile in 25 child patients screening novel non-invasive biomarkers for early PDCM diagnosis (Sun et al, 2020). A total of 1,156 circRNAs have the differential expression profile in PDCM under condition of fold change >2 and p < 0.05, including 257 upregulated and 899 downregulated circRNAs.…”

Section: Circrnas In the Dcm Study Circrnas In The Dcm Patient Heartmentioning

confidence: 99%

Circular RNA Expression for Dilated Cardiomyopathy in Hearts and Pluripotent Stem Cell–Derived Cardiomyocytes

Zhang

Huang

Zhang

et al. 2021

Front. Cell Dev. Biol.

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Dilated cardiomyopathy (DCM) is a type of heart disease delimited by enlargement and dilation of one or both of the ventricles along with damaged contractility, which is often accompanied by the left ventricular ejection fraction (LVEF) less than 40%. DCM is progressive and always leads to heart failure. Circular RNAs (circRNAs) are unique species of noncoding RNAs featuring high cell-type specificity and long-lasting conservation, which normally are involved in the regulation of heart failure and DCM recently. So far, a landscape of various single gene or polygene mutations, which can cause complex human cardiac disorders, has been investigated by human-induced pluripotent stem cell (hiPSC) technology. Furthermore, DCM has been modeled as well, providing new perspectives on the disease study at a cellular level. In addition, current genome editing methods can not only repair defects of some genes, but also rescue the disease phenotype in patient-derived iPSCs, even introduce pathological-related mutations into wild-type strains. In this review, we gather up the aspects of the circRNA expression and mechanism in the DCM disease scenario, facilitating understanding in DCM development and pathophysiology in the molecular level. Also, we offer an update on the most relevant scientific progress in iPSC modeling of gene mutation–induced DCM.

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