Medicina Molecular e Genética

Transmissible Spongiform Encephalopathies (TSEs) are a group of fatal neurodegenerative diseases affecting both humans and animals. The underlying cause of these disorders involves the misfolding and aggregation of the Prion Protein (PrP). Investigating the mechanisms behind TSEs requires a deep understanding of PrP's structure and function. Recombinant PrP technology has emerged as a pivotal tool in TSE research, offering precise control and manipulation of PrP variants. This article delves into the significance and applications of recombinant PrP in unraveling the complexities of TSEs, highlighting its contributions in diagnostics, therapeutics, and the fundamental understanding of prion biology.

Amid the persistent global challenges posed by the SARS-CoV-2 pandemic, the utilization of rapid antigen tests has significantly enhanced diagnostic capabilities. However, their applicability extends beyond mere diagnosis, offering a promising avenue for whole virus sequencing and variant detection. This article explores the potential and limitations of positive SARS-CoV-2 rapid antigen tests in RNA-based genomic surveillance. By discussing methodologies, challenges, and implications, this research underscores the pivotal role of these tests in preserving comprehensive genomic surveillance amid evolving viral variants.

RNA-based approaches have emerged as promising strategies for cancer treatment, providing innovative solutions to target specific genetic abnormalities associated with tumorigenesis. Among these approaches, the development and assessment of Antisense Oligonucleotides (ASOs) for targeted exon skipping have gained significant attention. In this article, we delve into the intricacies of RNA-based cancer treatment, focusing on the in silico methods employed in the design and evaluation of ASOs for exon skipping. We explore the molecular underpinnings of cancer, the role of RNA in disease progression, and the potential of ASOs to modulate gene expression with precision. Through an in-depth analysis of computational tools and techniques, we evaluate the effectiveness of ASOs in silico, paving the way for enhanced therapeutic outcomes in the realm of cancer treatment.

Mowat-Wilson Syndrome (MWS) is a syndrome with multiple congenital abnormalities first clinically delineated by Mowat DR, et al. in 1998. All affected patients exhibit typical dysmorphic features in association with severe intellectual disability and most have microcephaly and seizures. Congenital anomalies such as Hirschsprung disease, congenital heart disease, hypospadias, genitourinary malformations, corpus callosum agenesis and short stature are also common. There is no consensus on clinical diagnostic criteria, but MWS should be suspected in individuals with the aforementioned clinical features and head imaging findings. We report a full-term male newborn with microcephaly, congenital megacolon, hypospadias, facial dysmorphism and heart defect. Thus, MWS was suspected and later confirmed by a mutation analysis of the ZEB2 gene.