ABSTRACT
The SEPHS1 (Selenophosphate Synthetase 1) gene encodes a critical enzyme for synthesizing selenophosphate, the active donor of selenium (Se) necessary for selenoprotein biosynthesis. Selenoproteins are vital for antioxidant defense, thyroid hormone metabolism, and cellular homeostasis. Mutations in SEPHS1 gene, are associated with neurodevelopmental disorders with developmental delay, poor growth, hypotonia, and dysmorphic features. Due to Se's critical role in brain development and function, SEPHS1 gene has taken center stage in neurodevelopmental research. This review explores the structure and function of the SEPHS1 gene, its role in neurodevelopment, and the implications of its dysregulation for neurodevelopmental disorders. Therapeutic strategies, including Se supplementation, gene therapy, and targeted therapies, are discussed as potential interventions to address SEPHS1 associated neurodevelopmental dysfunction. The study's findings reveal how SEPHS1 mutations disrupt neurodevelopment, emphasizing the gene's intolerance to loss of function. Future research should focus on functional characterization of SEPHS1 variants, broader genetic screenings, and therapeutic developments.
ABSTRACT
The present study was undertaken to investigate the effect of lactic acid (LA), acetic acid, (AA) and trisodium phosphate (TSP) spray on the microbiological population of beef carcass surfaces slaughtered in a traditional abattoir in Zagazig, Egypt. Higher microbial populations were determined on the shoulder than on the thigh surfaces, and meat sampling by tissue excision technique yielded significantly higher (P < 0.01) microbial count than swabbing method. The application of LA (2%), AA (2%), and TSP (12%) sprays for 30 seconds significantly (P < 0.01) reduced the microbial population counts on the beef surfaces by 0.9 to 2.2 logs. A complete inhibition of enterococci growth was achieved by LA and AA sprays. In general, LA and AA sprays were more efficient as antimicrobial agents than the TSP spray. Among the studied organisms, enterococci were the most reducible bacteria by LA and AA, followed by Enterobacteriaceae and coliforms, while Staphylococcus aureus being the least. This study also indicated that microbial populations determined on the shoulder were higher than on the thigh surfaces, and meat sampling by tissue excision technique yielded significantly higher (P < 0.01) microbial count than swabbing method.