👤 Beatriz Paixão

Lipoprotein lipase (LPL) is a key enzyme in lipid metabolism, crucial for the hydrolysis of triglycerides in lipoproteins and maintaining lipid homeostasis in vertebrates. This study aims to characterize the lipoprotein lipase genes in the tambaqui ( Phylogenetic and syntenic analyses were used to identify the We identified three This study offers new insights into the evolution and functional diversification of lipoprotein lipases in vertebrates, highlighting the complexity of lipid metabolism in fish. These findings contribute to understanding the adaptability of teleost fish to diverse environments and lay the foundation for future research in lipid metabolism regulation, including Neotropical species, with potential applications in aquaculture and conservation. Show less

Sarcomas are a rare and diverse group of cancers occurring mainly in young individuals for which an underlying germline genetic cause remains unclear in most cases. Germline DNA from 177 children, adolescents and young adults with soft tissue or bone sarcomas was tested using multigene panels with 113 or 126 cancer predisposing genes (CPGs) to describe the prevalence of germline pathogenic/likely pathogenic variants (GPVs). Subsequent testing of a subset of tumours for loss of heterozygosity (LOH) evaluation was performed to investigate the clinical and molecular significance of these variants. GPVs were detected in 21.5% (38/177) of the patients (15.8% in children and 21.6% in adolescents and young adults), with dominant CPGs being altered in 15.2% overall. These variants were found in genes previously associated with the risk of developing sarcomas ( Our findings reveal that a high proportion of young patients with sarcomas presented a GPV in a CPG, underscoring the urgency of establishing appropriate genetic screening strategies for these individuals and their families. Show less