分子遺伝医学

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.

We present a case involving three brothers, all experiencing either normo- or oligospermia, who underwent several In-Vitro Fertilization (IVF) procedures without achieving a successful live birth. Each couple struggled with male or unexplained primary infertility for 10-15 years. Upon genetic testing, the second brother underwent Whole Exome Sequencing (WES), which revealed a mutation in the phospholipase C zeta 1 (PLCζ1) gene. This discovery introduced a new dimension to their infertility struggle, shedding light on the underlying issue hindering their ability to conceive.

The PLCζ1 gene, situated on chromosome 12, governs the production of the PLCζ1 enzyme. This enzyme primarily operates within the head of spermatozoa, playing a crucial role in regulating calcium signaling during fertilization. PLCζ1 facilitates the generation of inositol trisphosphate (IP3) within sperm cells, initiating a cascade of calcium ion (Ca²⁺) release events vital for fertilization, including egg activation and the fusion of sperm and egg nuclei.

With the knowledge of their genetic condition, all three brothers opted for the use of donor sperm. Consequently, two of them have since become parents, while the third is currently undergoing a pregnancy. This case underlies the importance of WES analysis in diagnosing cases of prolonged male and/or female infertility and repeated IVF failures.