👤 Diana-Cristina Patiño

Previous studies have reported that genetic variants in the GCKR, FADS1, BCO1, and FGF21 genes are associated with lipid metabolism and may contribute to the development of dyslipidemia (DL). In this study, we aimed to explore the relationship between single-nucleotide variants (SNVs) rs780094/rs1260326-GCKR, rs174546-FADS1, rs6564851-BCO1, and rs838133-FGF21 and the lipid profile, as a cumulative effect, through a Genetic Risk Score (GRS) in the Mexican-Mestizo population. This study was conducted in a population of 1,925 Mexican adults from the Health Workers Cohort Study. Demographic and clinical data were obtained through a structured questionnaire and standardized procedures. Genotyping assays were performed with predesigned TaqMan probes, and association analyses with lipid profile were estimated using linear and logistic regression. Our findings confirm that GRS is a predictor of cardiometabolic risk. Our data can be used for developing dietary strategies to improve the health of the Mexican population. Show less

Sacha Inchi oil (SIO) and hybrid palm oil (HPO) are potential sources of unsaturated fatty acids to improve the lipid profile of dairy products. This study evaluated, for the first time, the effects of the daily consumption of yogurts with enhanced fatty acid profiles on plasma lipids related to cardiovascular disease (CVD) risk factors. A pilot, randomized, double-blind, parallel-controlled trial was conducted with 47 participants assigned to three groups: SIO-enriched yogurt (Group A), HPO-enriched yogurt (Group B), and plain yogurt (Group C). Fasting blood samples were collected at baseline and after 1, 2, and 3 months to measure plasma lipids (TC, LDL-C, HDL-C, and TAG), ApoA1, and ApoB. While no significant changes were observed in the overall lipid profiles, notable within-group effects were identified. The total cholesterol (TC) dropped by 2.8%, 1.3%, and 3.3%, and LDL-C by 1.6%, 2.5%, and 2% in Groups A, B, and C, respectively. Additionally, the intake of monounsaturated fatty acids (MUFA), polyunsaturated fatty acids (PUFA), and vitamin E significantly increased in Groups A and B. These results suggest that SIO and HPO can be used as milk fat substitutes to enhance the nutritional profile of yogurts without affecting CVD biomarkers in healthy individuals. Show less

Germline mutations in the Exostoses-1 gene (EXT1) are found in hereditary multiple exostoses syndrome, which is characterized by the formation of osteochondromas and an increased risk of chondrosarcomas and osteosarcomas. However, despite its putative tumor-suppressor function, little is known of the contribution of EXT1 to human sporadic malignancies. Here, we report that EXT1 function is abrogated in human cancer cells by transcriptional silencing associated with CpG island promoter hypermethylation. We also show that, at the biochemical and cellular levels, the epigenetic inactivation of EXT1, a glycosyltransferase, leads to the loss of heparan sulfate (HS) synthesis. Reduced HS production can be reversed by the use of a DNA demethylating agent. Furthermore, the re-introduction of EXT1 into cancer cell lines displaying methylation-dependent silencing of EXT1 induces tumor-suppressor-like features, e.g. reduced colony formation density and tumor growth in nude mouse xenograft models. Screening a large collection of human cancer cell lines (n=79) and primary tumors (n=454) from different cell types, we found that EXT1 CpG island hypermethylation was common in leukemia, especially acute promyelocytic leukemia and acute lymphoblastic leukemia, and non-melanoma skin cancer. These findings highlight the importance of EXT1 epigenetic inactivation, leading to an abrogation of HS biosynthesis, in the processes of tumor onset and progression. Show less