Omics sciences and precision medicine in thyroid cancer.

Background: Thyroid cancer, a heterogeneous disease originating from the thyroid gland, stands as the predominant endocrine malignan-cy worldwide. Despite advances in diagnosis and treatment, some patients still experience recurrence and mortality, which highlights the need for more personalized approaches to treatment. Omics sciences, encompassing genomics, transcriptomics, proteomics, and metabolomics, offer a high-throughput and impartial methodology for investigating the molecular signatures of thyroid cancer. Methods: In the course of this review, we have adopted a focu-sed research strategy, meticulously selecting the most pertinent and emblematic articles related to the topic. Our methodology included a systematic examination of the scientific literature to guarantee a thorough and precise synthesis of the existing sources. Results: These techniques enable the identification of molecular markers that can aid in diagnosis, prognosis, and treatment selection. As an illustration, through genomics studies, numerous genetic alterations commonly discovered in thyroid cancer have been identified, such as mutations in the BRAF and RAS genes. Through transcriptomics studies, distinctively expressed genes in thyroid cancer have been uncovered, playing roles in diverse biological processes, including cell proliferation, invasion, and metastasis. These genes can serve as potential targets for novel therapies. Proteomics studies have unveiled differentially expressed proteins intricately involved in thyroid cancer pathogenesis, presenting promising biomarkers for early detection and disease progression monitoring. Metabolomics studies have identified alterations in metabolic pathways linked to thyroid cancer, offering promising avenues for potential therapeutic targets. Conclusions: Precision medicine in thyroid cancer involves the integration of omics sciences with clinical data to develop personalized treatment plans for patients. Employing targeted therapies guided by molecular markers has exhibited promising outcomes in enhancing the prognosis of thyroid cancer patients. Notably, those with advanced hyroid cancer carrying BRAF mutations have displayed substantial responses to specific targeted therapies, such as vemurafenib and dabrafenib.

Omics sciences and precision medicine in melanoma.

Background: This article provides an overview of the application of omics sciences in melanoma research. The name omics sciences refers to the large-scale analysis of biological molecules like DNA, RNA, proteins, and metabolites. Methods: In the course of this review, we have adopted a focu-sed research strategy, meticulously selecting the most pertinent and emblematic articles related to the topic. Our methodology included a systematic examination of the scientific literature to guarantee a thorough and precise synthesis of the existing sources. Results: With the advent of high-throughput technologies, omics have become an essential tool for understanding the complexity of melanoma. In this article, we discuss the different omics approaches used in melanoma research, including genomics, transcriptomics, proteomics, and metabolomics. We also highlight the major findings and insights gained from these studies, including the identification of new therapeutic targets and the development of biomarkers for diagnosis and prognosis. Finally, we discuss the challenges and future directions in omics-based melanoma research, including the integration of multiple omics data and the development of personalized medicine approaches. Conclusions: Overall, this article emphasizes the importance of omics science in advancing our understanding of melanoma and its potential for improving patient outcomes.

Nutrigenomics: SNPs correlated to minerals' deficiencies.

Abstract: Nutrigenetics and nutrigenomics are two interrelated fields that explore the influence of genetic diversity on nutrient responses and function. While nutrigenetics investigates the effects of hereditary ge-netic variations on micronutrient metabolism, nutrigenomics examines the intricate relationship between diet and the genome, studying how genetic variants impact nutrient intake and gene expression. These disciplines offer valuable insights into predicting and managing chronic diseases through personalized nutritional approaches. Nutrigenomics employs cutting-edge genomics technologies to study nutrient-genome interactions. Key principles involve genetic variability among ethnic groups, affecting nutrient bioavailability and metabolism, and the influence of dietary choices based on cultural, geographic, and socioeconomic factors. Polymorphisms, particularly single-nucleotide polymorphisms (SNPs), significantly influence gene activity and are associated with specific phenotypes that are related to micronutrient deficiencies. Minerals are inorganic elements, vital for various physiological functions. Understanding the SNPs associated with mineral deficien-cies is crucial for assessing disease risk and developing personalized treatment plans. This knowledge can inform public health interventions, targeted screening programs, educational campaigns, and fortified food products to address deficiencies effectively. Nutrigenomics research has the potential to revolutionize clinical and nutritional practices, providing personalized recommendations, enhancing illness risk assessment, and advancing public health initiatives. Despite the need for further research, harnessing nutrigenomics' potential can lead to more focused and efficient methods for preventing and treating mineral deficiencies.

Nutrigenomics: SNPs Correlated to Lipid and Carbohydrate Metabolism.

Background: Nutrigenomics - the study of the interactions between genetics and nutrition - has emerged as a pivotal field in personalized nutrition. Among various genetic variations, single-nucleotide polymorphisms (SNPs) have been extensively studied for their probable relationship with metabolic traits. Methods: Throughout this review, we have employed a targeted research approach, carefully handpicking the most representative and relevant articles on the subject. Our methodology involved a systematic review of the scientific literature to ensure a comprehensive and accurate overview of the available sources. Results: SNPs have demonstrated a significant influence on lipid metabolism, by impacting genes that encode for enzymes involved in lipid synthesis, transport, and storage. Furthermore, they have the ability to affect enzymes in glycolysis and insulin signaling pathways: in a way, they can influence the risk of type 2 diabetes. Thanks to recent advances in genotyping technologies, we now know numerous SNPs linked to lipid and carbohydrate metabolism. The large-scale studies on this topic have unveiled the potential of personalized dietary recommendations based on an individual's genetic makeup. Personalized nutritional interventions hold promise to mitigate the risk of various chronic diseases; however, translating these scientific insights into actionable dietary guidelines is still challenging. Conclusions: As the field of nutrigenomics continues to evolve, collaborations between geneticists, nutritionists, and healthcare providers are essential to harness the power of genetic information for improving metabolic health. By unraveling the genetic basis of metabolic responses to diet, this field holds the potential to revolutionize how we approach dietary recommendations and preventive healthcare practices.

Nutrigenomics: SNPs correlated to detoxification, antioxidant capacity and longevity.

Abstract: Nutritional genomics, also known as nutrigenomics, is the study of how a person's diet and genes interact with each other. The field of nutrigenomics aims to explain how common nutrients, food additives and preservatives can change the body's genetic balance towards either health or sickness. This study reviews the effects of SNPs on detoxification, antioxidant capacity, and longevity. SNPs are mutations that only change one nucleotide at a specific site in the DNA. Specific SNPs have been associated to a variety of biological processes, including detoxification, antioxidant capacity, and longevity. This article mainly focuses on the following genes: SOD2, AS3MT, CYP1A2, and ADO-RA2A (detoxification); LEPR, TCF7L2, KCNJ11, AMY1, and UCP3 (antioxidant capacity); FOXO3 and BPIFB4 (longevity). This review underlines that many genes-among which FOXO3, TCF7L2, LEPR, CYP1A2, ADORA2A, and SOD2-have a unique effect on a person's health, susceptibility to disease, and general well-being. Due to their important roles in numerous biological processes and their implications for health, these genes have undergone intensive research. Examining the SNPs in these genes can provide insight into how genetic variants affect individuals' responses to their environment, their likelihood of developing certain diseases, and their general state of health.

Molecular aspects of a novel HLA-A*02 allele (A*0297): the first HLA class I allele mutated at codon 232.

We describe a new HLA-A*02 allele, identified in a cord blood unit and in her mother. Nucleotide sequence analysis showed the presence of a new HLA-A*02 allele identical to HLA-A*02010101 except for a non-synonymous nucleotide exchange in exon 4 modifying codon 232 from GAG (Glu) to GAC (Asp). No other human leucocyte antigen class I allele sequenced so far shows this triplet at codon 232. The amino acid exchange affects a position that is part of the membrane proximal domain of class I major histocompatibility complex (MHC), designated alpha 3, and involved in the interaction with CD8 molecule. Using molecular modelling approach, the interactions between different subunits of the native and mutated forms of MHC-I resulted in relevant changes.

Microarray-based genetics of cardiac malformations.

One of the most revolutionary approaches in human genomics is DNA microarray technology. Latest developments have brought this technology to a widespread use. In this paper we discuss its usefulness especially for the study of the genetic component in congenital heart disease as a model of multifactorial disease and the possible clinical applications in the near future. Malformations of the heart and blood vessels account for the largest number of human birth defects. The susceptibility of the heart to developmental anomalies reflects the complexity of the morphogenetic events responsible for the heart formation. The genetics of congenital heart disease points to the existence of powerful disease modifiers. Tissue analysis of gene expression with cDNA microarrays provides a measure of transcriptional or posttranscriptional regulation. Large-scale partial sequencing of cDNA libraries generating expressed sequence tags is an effective means of discovering novel genes and characterizing transcription patterns in different organs and tissues. The qualitative and quantitative analysis of genes expressed in cardiac tissue by means of comparison of expression patterns related to the normal and to the pathological tissue may be of great importance for the study of cardiac pathologies. The variation in phenotypic penetrance and severity suggests that if we can identify high-risk individuals, a reduction in infant morbidity might be possible by altering environmental or maternal factors.