Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Forensic Sci Int Genet

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Spain; Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Spain; Biochemistry and Molecular Genetics Department, Hospital Clinic, University of Barcelona-IDIBAPS, Spain. Electronic address:

Published: July 2020

Over the last ten years, analysis of copy number variants has increasingly been applied to the study of arrhythmogenic pathologies associated with sudden death, mainly due to significant advances in the field of massive genetic sequencing. Nevertheless, few published reports have focused on the prevalence of copy number variants associated with sudden cardiac death. As a result, the frequency of these genetic alterations in arrhythmogenic diseases as well as their genetic interpretation and clinical translation has not been established. This review summarizes the current available data concerning copy number variants in sudden cardiac death-related diseases.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2020.102281DOI Listing

Publication Analysis

Top Keywords

copy number
16
number variants
16
sudden cardiac
12
cardiac death
8
associated sudden
8
sudden
4
copy
4
death copy
4
number
4
variants
4

Similar Publications

Synaptic vesicle (SV) trafficking toward the plasma membrane (PM) and subsequent SV maturation are essential for neurotransmitter release. These processes, including SV docking and priming, are co-ordinated by various proteins, such as SNAREs, Munc13 and synaptotagmin (Syt), which connect (tether) the SV to the PM. Here, we investigated how tethers of varying lengths mediate SV docking using a simplified mathematical model.

View Article and Find Full Text PDF

Quantitative Analysis of Hepatitis D Virus Using gRNA-Sensitive Semiconducting Polymer Dots.

Anal Chem

January 2025

State Key Laboratory of Integrated Optoelectronics, College of Electronics Science and Engineering, Jilin University, No. 2699 Qianjin Street, Changchun, Jilin 130012, P. R. China.

Hepatitis D virus (HDV) significantly influences the progression of liver diseases. Through clinical observations and database analyses, it has been established that patients coinfected with HDV and hepatitis B virus (HBV) experience accelerated progression toward cirrhosis, hepatocellular carcinoma (HCC), and liver failure compared to those infected solely with HBV. A higher viral load correlates with increased replicative activity, enhanced infectivity, and more severe disease manifestations.

View Article and Find Full Text PDF

Comparative analysis of regression algorithms for drug response prediction using GDSC dataset.

BMC Res Notes

January 2025

Department of Computer Engineering, Chungbuk National University, Chungdae-ro 1, Cheongju, 28644, Republic of Korea.

Background: Drug response prediction can infer the relationship between an individual's genetic profile and a drug, which can be used to determine the choice of treatment for an individual patient. Prediction of drug response is recently being performed using machine learning technology. However, high-throughput sequencing data produces thousands of features per patient.

View Article and Find Full Text PDF

Background: Acute myeloid leukemia (AML) is an aggressive hematological neoplasm. Little improvement in survival rates has been achieved over the past few decades. Necroptosis has relationship with certain types of malignancies outcomes.

View Article and Find Full Text PDF

Unlabelled: This study aimed to synthesize evidence from primary studies on the acceptability and effectiveness of mindfulness-based interventions (MBIs) for improving lifestyle behaviors and body mass index (BMI) in children with overweight or obesity. We conducted a meta-analysis or followed the Synthesis Without Meta-analysis (SWiM) guidelines to synthesize study findings. The analysis included both mindfulness-only interventions and comprehensive behavioral interventions incorporating mindfulness components.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!