scholarly journals GENE EXPRESSION PATTERN ANALYSIS FOR FORENSIC DIAGNOSIS OF SUDDEN CARDIAC DEATH

2020 ◽  
Vol 4 (9) ◽  
Author(s):  
Saikat Das ◽  
Ritwik Ghosh ◽  
Soumeek Chowdhuri
Keyword(s):  
Gene Expression ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Connexin 43 ◽  
Gene Expression Pattern ◽  
Protein Markers ◽  
Zonula Occludens ◽  
Current Scenario ◽  
Hemoglobin A1 ◽  
Insight Into

Diagnosis of Sudden cardiac death (SCD) is challenging for forensic experts. In the current scenario, genetic analysis is rapidly gaining interest in forensic science. Previous studies are not only limited to using protein markers. In this regard, analysis of mRNA is also a key feature. Analysing mRNA offers insight into the diseases and mechanisms leading to death. It can also be used for forensic diagnostic purposes. This review article takes the help of this methodology to discuss about those mRNA species that can aid in the process of sudden cardiac death (SCD) diagnosis. These are mRNA encoding Heat Shock Protein (HSP), mRNA encoding Hemoglobin A1/2 & B, mRNA encoding Pyruvate Dehydrogenase (PDK4), mRNAs encoding Connexin 43 (Cx43) & Zonula occludens-1 (ZO1), mRNA encoding TNNI3, MYL3, TGFB1, MMP9, VEGFA and mRNA expressing Brain Natriuretic Peptide (BNP).Owing to the difficulty of diagnosing SCD, molecular markers are often developed that can aid in the process. Nowadays, mRNA is showing promising usefulness to supplement the process. Keywords: Sudden Cardiac Death, forensic, gene expression

scholarly journals Cardiac macrophages prevent sudden death during heart stress

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Junichi Sugita ◽  
Katsuhito Fujiu ◽  
Yukiteru Nakayama ◽  
Takumi Matsubara ◽  
Jun Matsuda ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Sudden Death ◽  
Gap Junctions ◽  
Adrenergic Receptor ◽  
Cardiac Death ◽  
Connexin 43 ◽  
Pressure Overload ◽  
Impulse Conduction ◽  
Cardiac Impulse ◽  
Medical Need

AbstractCardiac arrhythmias are a primary contributor to sudden cardiac death, a major unmet medical need. Because right ventricular (RV) dysfunction increases the risk for sudden cardiac death, we examined responses to RV stress in mice. Among immune cells accumulated in the RV after pressure overload-induced by pulmonary artery banding, interfering with macrophages caused sudden death from severe arrhythmias. We show that cardiac macrophages crucially maintain cardiac impulse conduction by facilitating myocardial intercellular communication through gap junctions. Amphiregulin (AREG) produced by cardiac macrophages is a key mediator that controls connexin 43 phosphorylation and translocation in cardiomyocytes. Deletion of Areg from macrophages led to disorganization of gap junctions and, in turn, lethal arrhythmias during acute stresses, including RV pressure overload and β-adrenergic receptor stimulation. These results suggest that AREG from cardiac resident macrophages is a critical regulator of cardiac impulse conduction and may be a useful therapeutic target for the prevention of sudden death.

scholarly journals Inhibition of c-Src Tyrosine Kinase Prevents Angiotensin II–Mediated Connexin-43 Remodeling and Sudden Cardiac Death

2011 ◽  
Vol 58 (22) ◽  
pp. 2332-2339 ◽  
Author(s):  
Ali A. Sovari ◽  
Shahriar Iravanian ◽  
Elena Dolmatova ◽  
Zhe Jiao ◽  
Hong Liu ◽  
...  
Keyword(s):  
Angiotensin Ii ◽  
Sudden Cardiac Death ◽  
Tyrosine Kinase ◽  
Cardiac Death ◽  
Connexin 43 ◽  
Src Tyrosine Kinase

scholarly journals A New Insight Into Sudden Cardiac Death in Young People

Medicine ◽  
2015 ◽  
Vol 94 (32) ◽  
pp. e1174 ◽  
Author(s):  
Yueyue Wang ◽  
Lei Xia ◽  
Xiaodong Shen ◽  
Guoxin Han ◽  
Dan Feng ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Young People ◽  
Cardiac Death ◽  
Insight Into

Insight into stress-induced cardiomyopathy and sudden cardiac death due to stress. A forensic cardio-pathologist point of view

2010 ◽  
Vol 194 (1-3) ◽  
pp. 1-8 ◽  
Author(s):  
Vittorio Fineschi ◽  
Manolis Michalodimitrakis ◽  
Stefano D’Errico ◽  
Margherita Neri ◽  
Cristoforo Pomara ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Point Of View ◽  
Insight Into

scholarly journals Molecular basis for clinical diversity between autoantibody subsets in diffuse cutaneous systemic sclerosis

2021 ◽  
pp. annrheumdis-2021-220402
Author(s):  
Kristina Elizabeth Neergaard Clark ◽  
Corrado Campochiaro ◽  
Eszter Csomor ◽  
Adam Taylor ◽  
Katherine Nevin ◽  
...  
Keyword(s):  
Gene Expression ◽  
Systemic Sclerosis ◽  
Serum Protein ◽  
Molecular Basis ◽  
Expression Profiles ◽  
Rna Polymerase Iii ◽  
Gene Expression Profiles ◽  
Longitudinal Change ◽  
Protein Markers ◽  
Insight Into

ObjectivesClinical heterogeneity is a cardinal feature of systemic sclerosis (SSc). Hallmark SSc autoantibodies are central to diagnosis and associate with distinct patterns of skin-based and organ-based complications. Understanding molecular differences between patients will benefit clinical practice and research and give insight into pathogenesis of the disease. We aimed to improve understanding of the molecular differences between key diffuse cutaneous SSc subgroups as defined by their SSc-specific autoantibodiesMethodsWe have used high-dimensional transcriptional and proteomic analysis of blood and the skin in a well-characterised cohort of SSc (n=52) and healthy controls (n=16) to understand the molecular basis of clinical diversity in SSc and explore differences between the hallmark antinuclear autoantibody (ANA) reactivities.ResultsOur data define a molecular spectrum of SSc based on skin gene expression and serum protein analysis, reflecting recognised clinical subgroups. Moreover, we show that antitopoisomerase-1 antibodies and anti-RNA polymerase III antibodies specificities associate with remarkably different longitudinal change in serum protein markers of fibrosis and divergent gene expression profiles. Overlapping and distinct disease processes are defined using individual patient pathway analysis.ConclusionsOur findings provide insight into clinical diversity and imply pathogenetic differences between ANA-based subgroups. This supports stratification of SSc cases by ANA antibody subtype in clinical trials and may explain different outcomes across ANA subgroups in trials targeting specific pathogenic mechanisms.

scholarly journals Sudden Cardiac Death—A New Insight Into Potentially Fatal Genetic Markers

2021 ◽  
Vol 8 ◽  
Author(s):  
Dragan Primorac ◽  
Ljubica Odak ◽  
Vitorio Perić ◽  
Jasmina Ćatić ◽  
Jozica Šikić ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Laboratory Data ◽  
Scientific Paper ◽  
Genetic Etiology ◽  
Cardiac Symptoms ◽  
History Of ◽  
Football Field ◽  
Insight Into ◽  
Professional Footballer

Sudden cardiac death (SCD) is an unexpected and dramatic event. It draws special attention especially in young, seemingly healthy athletes. Our scientific paper is based on the death of a young, 23-year-old professional footballer, who died on the football field after a two-year history of cardiac symptoms. In this study we analyzed clinical, ECG and laboratory data, as well as results of genetic testing analysis in family members. To elucidate potential genetic etiology of SCD in this family, our analysis included 294 genes related to various cardiac conditions.

scholarly journals PATH-10. EFFECTS OF 19q-LOSS IN IDH-MUTATED ASTROCYTOMAS ON BETTER PROGNOSIS AND OLIGODENDROGLIOMA-LIKE MORPHOLOGY

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii165-ii166
Author(s):  
Ryohei Otani ◽  
Takeo Uzuka ◽  
Fumi Higuchi ◽  
Hadzki Matsuda ◽  
Shota Tanaka ◽  
...  
Keyword(s):  
Gene Expression ◽  
Stem Cell ◽  
Expression Pattern ◽  
Expression Patterns ◽  
Gene Expression Pattern ◽  
Differentially Expressed ◽  
Stem Cell Maintenance ◽  
Insight Into ◽  
Cell Maintenance ◽  
Glioma Progression

Abstract We previously reported that there was a subgroup of IDH-mutated astrocytomas harboring only 19q-loss showing oligodendroglioma-like morphology and significantly longer overall survival (OS) compared with 19q-intact astrocytomas. To further explore the biological characteristics of this possible subgroup and obtain insight into the mechanism of their clinical behavior, we compared gene expression pattern between five 19q-loss and five 19q-intact IDH-mutated astrocytomas by microarray analysis. Comparing expression level of each genes between 19q-loss and 19q-intact astrocytomas,136 up-regulated genes and 203 down-regulated genes were extracted. Gene expression patterns of 19q-loss astrocytomas were partially different from that of 19q-intact astrocytomas. More down-regulated genes distributed on 19q and 4p, and more up-regulated genes distributed on 4q. Multiple genes associated with stem cell maintenance were down-regulated in 19q-loss astrocytomas, and genes associated with glioma progression were differentially expressed. Comparing expression patterns among 19q-loss astrocytomas and other IDH-mutant glioma subgroups using TCGA datasets by t-SNE analysis revealed that expression pattern of 19q-loss astrocytomas did not shift to that of oligodendrogliomas with 1p/19q codeletion but were a subgroup in astrocytomas. These results indicated that 19q-loss in astrocytomas was an acquired event different from 1p/19q codeletion in oligodendrogliomas, and better prognosis morphological features in 19q-loss astrocytomas were derived from differentially expressed genes associated with stem cell maintenance and glioma progression.

scholarly journals MPC-11 Comprehensive gene expression analysis of IDH-mutated astrocytomas with 19q-loss

2020 ◽  
Vol 2 (Supplement_3) ◽  
pp. ii12-ii12
Author(s):  
Ryohei Otani ◽  
Akitake Mukasa ◽  
Takeo Uzuka ◽  
Fumi Higuchi ◽  
Hadzki Matsuda ◽  
...  
Keyword(s):  
Gene Expression ◽  
Stem Cell ◽  
Gene Expression Pattern ◽  
Differentially Expressed ◽  
Early Event ◽  
Data Set ◽  
Stem Cell Maintenance ◽  
Insight Into ◽  
Cell Maintenance ◽  
Glioma Progression

Abstract We previously reported that there was a subgroup of IDH-mutated astrocytomas harboring only 19q-loss showing oligodendroglioma-like morphology and significantly longer overall survival (OS) compared with 19q-intact astrocytomas. To further explore the biological characteristics of this possible subgroup and obtain insight into the mechanism of their relatively benign clinical behavior, we compared gene expression pattern between five 19q-loss and five 19q-intact IDH-mutated astrocytomas by microarray analysis. By comparing expression levels of genes of 19q-loss astrocytomas to those of 19q-intact astrocytomas,136 up-regulated genes and 203 down-regulated genes were extracted. Down-regulated genes in the 19q-loss astrocytomas were heavily clustered to 19q and 4p, and up-regulated genes to 4q. It was noted that fibroblast growth factor 1 associated with stem cell maintenance was down-regulated in 19q-loss astrocytomas and genes associated with glioma progression were differentially expressed, these results were validated with the independent TCGA data set. On t-SNE analysis of the 19q-loss astrocytomas with other IDH-mutant glioma subgroups from the TCGA datasets, 19q-loss astrocytomas did not shift to oligodendrogliomas with 1p/19q codeletion but were a subgroup in astrocytomas. These results indicated that 19q-loss in astrocytomas is more likely to be an acquired event rather than early event in oncogenesis like 1p/19q codeletion in oligodendrogliomas, and the biological and morphological features of 19q-loss astrocytomas were possibly related to differentially expressed genes associated with stem cell maintenance and glioma progression.

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