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Aims and background:
Idiopathic ventricular fibrillation (IVF) is a cause of sudden cardiac death (SCD). The frequency of mutations in disease-causing genes ranges, on average, between 16 and 48% in SCD cases. This study aimed to identify novel mutations in IVF patients without KCNQ1, KCNH2, and SCN5A mutations using whole-exome sequencing (WES)....
Contexts in source publication
Context 1
... classification of variants is according to Richards et al. [18]. Figure 1 shows an overview of the approach used to assess the pathogenicity of genetic variants identified in IVF-related SCD. ...
Context 2
... lidation by Sanger sequencing. Primer 3 software was used to design primers for the variants identified by WES (Supplementary Ta ble 1). PCR was performed in a total volume of 20 μl containing 25 ng genomic DNA, 2.5 μl 10× Ta q buffer, 0.2 mM dNTPs, 1.25 U Ta q polymerase, 0.2 μM of each primer, and water. ...
Citations
... These arrays can include the analysis of coding or non-coding regions or focus only on exons (Lam et al., 2010). Besides analyzing SNPs, we are now beginning to use (although still sporadically in the studies regarding MD associations) direct genome sequencing (NGS), either focused on the exome or by extending it to more regions of the genome (Chang et al., 2018;Geng et al., 2018;Caspar et al., 2018). This technique allows us to detect all types of genetic variation (SNPs, CNVs, insertions, deletions, etc.) and the applications in the MD field will be informative in the near future. ...
More than 50 years after the Seven Countries Study, a large number of epidemiological studies have explored the relationship between the Mediterranean diet (MD) and health, through cross-sectional, some longitudinal and a few experimental studies. The overall results show strong evidence suggesting a protective effect of the MD mainly on the risk of cardiovascular disease (CVD) and certain types of cancer. The beneficial effects have been attributed to the types of food consumed, components in the food, cooking techniques, eating behaviors and lifestyle behaviors, among others. The aim of this article is to review and summarize the knowledge derived from the literature focusing on the benefits of the MD on health, including those that have been extensively investigated (CVD, cancer) along with more recent issues such as mental health, immunity, quality of life, etc. The review begins with a brief description of the MD, a brief description of and its components. Then we present a review of studies evaluating metabolic biomarkers and genotypes in relation to the MD. Other sections are dedicated to observation and intervention studies for various pathologies. Finally, some insights into the relationship between the MD and sustainability are explored. In conclusion, the research undertaken on metabolomics approaches has identified potential markers for certain MD components and patterns, but more investigation is needed to obtain valid measures. Further evaluation of gene-MD interactions are also required to better understand the mechanisms by which the MD diet exerts its beneficial effects on health. Observation and intervention studies, particularly PREDIMED, have provided invaluable data on the benefits of the MD for a wide range of chronic diseases. However further research is needed to explore the effects of other lifestyle components associated with Mediterranean populations, its environmental impact, as well as the MD extrapolation to non-Mediterranean contexts.
