scholarly journals Sudden Unexplained Death Caused by Cardiac Ryanodine Receptor (RyR2) Mutations

2004 ◽  
Vol 79 (11) ◽  
pp. 1367-1371 ◽  
Author(s):  
Xander H.T. Wehrens ◽  
Andrew R. Marks
Keyword(s):  
Ryanodine Receptor ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Cardiac Ryanodine Receptor

Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases

2012 ◽  
Vol 127 (1) ◽  
pp. 139-144 ◽  
Author(s):  
M. K. Larsen ◽  
K. E. Berge ◽  
T. P. Leren ◽  
P. H. Nissen ◽  
J. Hansen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Ryanodine Receptor ◽  
Sudden Unexplained Death ◽  
Unexplained Death ◽  
Death Cases ◽  
Postmortem Genetic Testing

Human Cardiac Ryanodine Receptor: Preparation, Crystallization and Preliminary X-ray Analysis of the N-terminal Region

2013 ◽  
Vol 20 (11) ◽  
pp. 1211-1216 ◽  
Author(s):  
L’ubomír Borko ◽  
Július Kostan ◽  
Alexandra Zahradníkova ◽  
Vladimír Pevala ◽  
Juraj Gasperík ◽  
...  
Keyword(s):  
Ryanodine Receptor ◽  
Terminal Region ◽  
X Ray ◽  
Cardiac Ryanodine Receptor

Antiarrhythmic Potential of Drugs Targeting the Cardiac Ryanodine Receptor Ca2+ Release Channel: Case Study of Dantrolene

2014 ◽  
Vol 21 (8) ◽  
pp. 1062-1072 ◽  
Author(s):  
Karoly Acsai ◽  
Norbert Nagy ◽  
Zoltan Marton ◽  
Kinga Oravecz ◽  
Andras Varro
Keyword(s):  
Ryanodine Receptor ◽  
Release Channel ◽  
Cardiac Ryanodine Receptor

scholarly journals Differential Methylation in the GSTT1 Regulatory Region in Sudden Unexplained Death and Sudden Unexpected Death in Epilepsy

2021 ◽  
Vol 22 (6) ◽  
pp. 2790
Author(s):  
Steffan Noe Christiansen ◽  
Stine Bøttcher Jacobsen ◽  
Jeppe Dyrberg Andersen ◽  
Marie-Louise Kampmann ◽  
Linea Christine Trudsø ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Cardiac Tissue ◽  
Heart Diseases ◽  
Regulatory Region ◽  
Differential Methylation ◽  
Sudden Unexpected Death ◽  
Diagnostic Challenge ◽  
Unexpected Death ◽  
Sudden Unexplained Death ◽  
Unexplained Death

Sudden cardiac death (SCD) is a diagnostic challenge in forensic medicine. In a relatively large proportion of the SCDs, the deaths remain unexplained after autopsy. This challenge is likely caused by unknown disease mechanisms. Changes in DNA methylation have been associated with several heart diseases, but the role of DNA methylation in SCD is unknown. In this study, we investigated DNA methylation in two SCD subtypes, sudden unexplained death (SUD) and sudden unexpected death in epilepsy (SUDEP). We assessed DNA methylation of more than 850,000 positions in cardiac tissue from nine SUD and 14 SUDEP cases using the Illumina Infinium MethylationEPIC BeadChip. In total, six differently methylated regions (DMRs) between the SUD and SUDEP cases were identified. The DMRs were located in proximity to or overlapping genes encoding proteins that are a part of the glutathione S-transferase (GST) superfamily. Whole genome sequencing (WGS) showed that the DNA methylation alterations were not caused by genetic changes, while whole transcriptome sequencing (WTS) showed that DNA methylation was associated with expression levels of the GSTT1 gene. In conclusion, our results indicate that cardiac DNA methylation is similar in SUD and SUDEP, but with regional differential methylation in proximity to GST genes.

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