Publications by authors named "Eugenia Mazzaferro"
Aims/hypothesis: Genome-wide studies have uncovered multiple independent signals at the RREB1 locus associated with altered type 2 diabetes risk and related glycaemic traits. However, little is known about the function of the zinc finger transcription factor Ras-responsive element binding protein 1 (RREB1) in glucose homeostasis or how changes in its expression and/or function influence diabetes risk.
Methods: A zebrafish model lacking rreb1a and rreb1b was used to study the effect of RREB1 loss in vivo.
Article Synopsis
- - The study analyzed data from 703,901 individuals and identified 99 genetic loci related to physical activity levels and sedentary behavior, particularly focusing on leisure time activities and screen use.
- - Certain genes linked to sedentary behavior show heightened expression in skeletal muscle when influenced by resistance training, highlighting a connection between genetics and exercise.
- - The findings suggest that lower screen time and increased physical activity can positively impact health, but these effects may be influenced by factors like body mass index (BMI).
Article Synopsis
- Obesity is a significant risk factor for diseases related to heart and metabolism, but some people with obesity don’t develop these health issues.
- Researchers have found 62 genetic loci where the same genetic variant is linked to both increased body fat and a lower risk of cardiometabolic diseases, suggesting complex interactions between genetics and health outcomes.
- The study highlights key genes involved in fat distribution, adipocyte (fat cell) function, insulin signaling, energy expenditure, tissue "browning," and inflammation, indicating potential targets for treatments aimed at reducing disease risk associated with obesity.
A meta-analysis of genome-wide association studies (GWAS) identified eight loci that are associated with heart rate variability (HRV), but candidate genes in these loci remain uncharacterized. We developed an image- and CRISPR/Cas9-based pipeline to systematically characterize candidate genes for HRV in live zebrafish embryos. Nine zebrafish orthologues of six human candidate genes were targeted simultaneously in eggs from fish that transgenically express GFP on smooth muscle cells (Tg[acta2:GFP]), to visualize the beating heart.
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