分子遺伝医学

Chromosome 4q deletion syndrome is a chromosomal disorder caused by the loss of a segment of the long arm of chromosome 4. It was first described in 1967 and is associated with symptoms in several organ systems. Some children with 4q deletion syndrome have psychiatric symptoms. These include aggression, hearing passive speech (verbal hallucinations), mood swings, and delusions. It should be noted that not all people with 4q deletion syndrome have these symptoms and the symptoms can vary greatly.

Gastric cancer remains a significant global health challenge, demanding innovative therapeutic approaches to combat tumor resistance mechanisms. The Epithelial Cell Adhesion Molecule (EpCAM) has emerged as a potential target for Chimeric Antigen Receptor (CAR) T cell therapy. However, the efficacy of this promising treatment is hampered by tumor resistance mechanisms. This article comprehensively reviews the current understanding of tumor resistance mechanisms in gastric cancer, with a specific focus on EpCAM-targeted CAR T cell therapy. From genetic alterations to microenvironmental factors, we explore the intricate landscape of resistance mechanisms and discuss strategies to overcome these challenges for improving the clinical success of CAR T cell therapy in gastric cancer.

Aluminum (Al) toxicity is a major constraint in plant growth and development, particularly in acidic soils where solubility and bioavailability of aluminum ions increase. This study investigates the potential alleviative effects of melatonin on aluminum toxicity in alfalfa (Medicago sativa L.). Physiological parameters and transcriptomic analysis were employed to elucidate the molecular mechanisms underlying melatonin-mediated alleviation of aluminum stress. Results demonstrate that melatonin application mitigates aluminum-induced oxidative stress, enhances antioxidant enzyme activity, and improves plant growth in alfalfa. Transcriptomic analysis reveals the differential expression of genes associated with aluminum detoxification, antioxidant defense, and stress response. The findings suggest that melatonin plays a crucial role in enhancing aluminum tolerance in alfalfa through modulation of key molecular pathways.

Psoriasis, a chronic autoimmune skin disorder, has long been a subject of intensive research to decipher its complex pathophysiology. In recent years, advancements in genomics have opened new avenues for understanding the molecular intricacies underlying psoriasis. This article delves into the relevance of repetitive elements in psoriatic skin by examining the transcriptional landscape derived from large cohort studies. Through a comprehensive analysis of genomic data, this review aims to shed light on the involvement of repetitive elements in the pathophysiology of psoriasis, exploring their potential as biomarkers and therapeutic targets.

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.

Neurodegenerative Diseases (NDs) are a group of disorders that affect the central nervous system, causing progressive and irreversible deterioration of brain function. Despite extensive research efforts, the etiology and pathogenesis of NDs remain poorly understood. Genomic approaches, which involve the analysis of genes and their expression, DNA sequence variations and epigenetic modifications, have provided valuable insights into the mechanisms underlying NDs. In this paper, we review the latest advances in genomic research on NDs, including genome-wide association studies, transcriptomics, epigenetics and functional genomics. We also discuss the potential implications of these findings for the development of novel therapeutic approaches for NDs.

Autoimmune disorders refer to a group of diseases that occur when the immune system attacks healthy cells in the body. These diseases are often characterized by chronic inflammation and can affect different organs and tissues in the body, including the joints, skin and digestive tract. Autoimmune disorders are thought to arise from the interplay between genetic and environmental factors. Recent studies have highlighted the importance of the gut micro biome in modulating immune function and its potential role in the development of autoimmune disorders.

Metabolic Syndrome (MetS) is a complex disorder that involves a cluster of metabolic abnormalities, including central obesity, insulin resistance, dyslipidemia, and hypertension. It is a significant public health problem and a leading cause of cardiovascular disease and type 2 diabetes mellitus. The molecular mechanisms underlying the development of MetS are multifactorial and involve a combination of genetic, environmental, and lifestyle factors. In this review, we discuss the molecular mechanisms of MetS and potential therapeutic targets.

Cancer is a complex and heterogeneous disease that results from genetic and epigenetic alterations in the genome. These alterations are known as drivers of cancer progression, which enable the acquisition of the hallmarks of cancer, including sustained proliferative signaling, evasion of apoptosis, and tissue invasion and metastasis. The identification of genetic and epigenetic drivers of cancer has led to the development of precision medicine approaches that aim to personalize cancer treatment based on the specific molecular alterations driving each individual patient's tumor. In this review, we discuss the genetic and epigenetic drivers of cancer progression and their implications for precision medicine.