Mitochondrial genome variations in idiopathic dilated cardiomyopathy

Govindaraj, Periyasamy; Rani, Bindu; Sundaravadivel, Pandarisamy; Vanniarajan, Ayyasamy; Indumathi, K.P.; Khan, Nahid Akthar; Dhandapany, Perundurai S.; Rani, Deepa Selvi; Tamang, Rakesh; Bahl, Ajay; Narasimhan, Calambur; Rakshak, Dharma; Rathinavel, Andiappan; Premkumar, Kumpati; Khullar, Madhu; Thangaraj, Kumarasamy

doi:10.1016/j.mito.2019.03.003

Cited by 18 publications

(8 citation statements)

References 43 publications

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“…MT-CO2 is part of the electron transport chain of the mitochondria. Reduced activity of the electron transport chain subunits has been described independently of etiology in ischemic or idiopathic DCM patients [ 48 ].…”

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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Section: Discussionmentioning

confidence: 99%

Circulating circRNA as Biomarkers For Dilated Cardiomyopathy Etiology

Costa

Calderón‐Domínguez

Mangas

et al. 2021

Preprint

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Background: 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. Methods: 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. Results: 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. Conclusions: 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.

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“…Dilated cardiomyopathy occurs more rarely in MD patients, in which DCM may represent the initial manifestation of cardiac involvement [ 66 ]. Furthermore, some studies found DCM more frequently associated with mitochondrial diabetes (MIDD, Maternally Inherited Diabetes and Deafness) (OMIM 520000) [ 67 ].…”

Section: Mitochondrial Cardiomyopathy (Mcm)mentioning

confidence: 99%

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

Mazzaccara

Mirra

Barretta

et al. 2021

IJMS

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Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, laboratory, and neuroimaging investigations. Currently, the molecular screening for MCM is fundamental part of MDs management and allows achieving the definitive diagnosis. In this article, we review the current genetic knowledge associated with MDs, focusing on diagnosis of MCM and MDs showing cardiac involvement. We searched for publications on mitochondrial and nuclear genes involved in MCM, mainly focusing on genetic screening based on targeted gene panels for the molecular diagnosis of the MCM, by using Next Generation Sequencing. Here we report twelve case reports, four case-control studies, eleven retrospective studies, and two prospective studies, for a total of twenty-nine papers concerning the evaluation of cardiac manifestations in mitochondrial diseases. From the analysis of published causal mutations, we identified 130 genes to be associated with mitochondrial heart diseases. A large proportion of these genes (34.3%) encode for key proteins involved in the oxidative phosphorylation system (OXPHOS), either as directly OXPHOS subunits (22.8%), and as OXPHOS assembly factors (11.5%). Mutations in several mitochondrial tRNA genes have been also reported in multi-organ or isolated MCM (15.3%). This review highlights the main disease-genes, identified by extensive genetic analysis, which could be included as target genes in next generation panels for the molecular diagnosis of patients with clinical suspect of mitochondrial cardiomyopathies.

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Mitochondrial genome variations in idiopathic dilated cardiomyopathy

Cited by 18 publications

References 43 publications

Circulating circRNA as biomarkers for dilated cardiomyopathy etiology

Circulating circRNA as biomarkers for dilated cardiomyopathy etiology

Circulating circRNA as Biomarkers For Dilated Cardiomyopathy Etiology

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

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