Medicina molecular y genética

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social communication and repetitive behaviors. While genetic factors play a significant role in ASD, emerging evidence suggests that environmental factors, including drug exposure during pregnancy, can also contribute to its etiology. Glial cells, once considered mere support cells in the brain, are now recognized as key players in neuronal function and neurodevelopment. Additionally, epigenetic mechanisms, such as DNA methylation and histone modifications, have been implicated in the pathogenesis of ASD. This article explores the functions of glial cells and epigenetic processes in drug-induced ASD, highlighting their interplay and potential therapeutic implications.

Nanoparticles have garnered considerable interest in the field of antiviral therapeutics due to their unique properties and potential applications. Among these, cerium oxide (ceria) nanoparticles have shown promise as a novel antiviral agent, demonstrating durable, strong, and broadspectrum activity against RNA viruses. This paper explores the mechanism by which ceria nanoparticles target virion surfaces, leading to the inactivation of viral infectivity. By interfering with virus-receptor interactions, ceria nanoparticles disrupt crucial steps in the viral lifecycle, offering a promising avenue for the development of effective antiviral strategies.

Protein Post-Translational Modifications (PTMs) are critical regulators of cellular processes, influencing protein function, localization, and interactions. O-GlcNAcylation, the addition of N-acetylglucosamine (GlcNAc) to serine or threonine residues of proteins, is a dynamic and reversible PTM with implications in various diseases, including diabetes, cancer, and neurodegeneration. Accurate prediction of O-GlcNAc sites is essential for understanding their roles in cellular signaling and disease mechanisms. Traditional experimental methods for identifying O-GlcNAc sites, such as mass spectrometry, are timeconsuming and costly. Computational approaches offer a cost-effective and efficient alternative, facilitating large-scale analysis of O-GlcNAcylatio.

The Circular Polymerase Extension Reaction (CPER) is a cutting-edge molecular technique that enables rapid and efficient production of recombinant Flaviviruses. This method harnesses the power of circular DNA templates and DNA polymerase to amplify and assemble viral genomes in a single reaction, offering advantages in terms of speed, scalability, and flexibility compared to traditional cloning methods. In this comprehensive review, we delve into the principles, applications, and recent advancements of CPER in the context of Flavivirus research. We discuss its potential impact on vaccine development, pathogenesis studies, and antiviral drug discovery. Furthermore, we explore the challenges and future directions of CPER-based approaches, highlighting its significance in advancing our understanding and combatting Flavivirus infections.

Presentamos el caso de tres hermanos, todos ellos con normo u oligospermia, que se sometieron a varios procedimientos de fertilización in vitro (FIV) sin lograr un nacimiento con vida. Cada pareja luchó contra la infertilidad masculina o primaria inexplicable durante 10 a 15 años. Tras las pruebas genéticas, el segundo hermano se sometió a una secuenciación completa del exoma (WES), que reveló una mutación en el gen de la fosfolipasa C zeta 1 (PLCζ1). Este descubrimiento introdujo una nueva dimensión en su lucha contra la infertilidad, arrojando luz sobre el problema subyacente que obstaculizaba su capacidad de concebir.

El gen PLCζ1, situado en el cromosoma 12, regula la producción de la enzima PLCζ1. Esta enzima actúa principalmente en la cabeza de los espermatozoides y desempeña un papel crucial en la regulación de la señalización del calcio durante la fecundación. La PLCζ1 facilita la generación de trifosfato de inositol (IP3) en los espermatozoides, lo que inicia una cascada de eventos de liberación de iones de calcio (Ca ²⁺ ) vitales para la fecundación, incluida la activación del óvulo y la fusión de los núcleos. del espermatozoide y el óvulo.

Conociendo su condición genética, los tres hermanos optaron por el uso de semen de donante. De esta manera, dos de ellos ya se han convertido en padres, mientras que el tercero se encuentra actualmente en proceso de gestación. Este caso pone de relieve la importancia del análisis WES en el diagnóstico de casos de infertilidad masculina y/o femenina prolongada y fracasos repetidos de FIV.