Advances in GeneticsPub Date : 2025-01-01Epub Date: 2024-12-16DOI: 10.1016/bs.adgen.2024.11.001
María José Ortuño Romero, Daxiang Na
{"title":"From metabolomics to energy balance physiology.","authors":"María José Ortuño Romero, Daxiang Na","doi":"10.1016/bs.adgen.2024.11.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2024.11.001","url":null,"abstract":"<p><p>Omics technologies are transforming our understanding of disease mechanisms and reshaping clinical practice. By enabling high-throughput, unbiased data collection at various molecular levels - including genes (genomics), mRNA (transcriptomics), proteins (proteomics), and metabolites (metabolomics) - omics approaches offer a comprehensive view of biological states in both health and disease. Among these, metabolomics has emerged as a pivotal tool, rapidly evolving beyond diagnostics to become a cutting-edge technique for pinpointing metabolites that regulate key physiological processes. This chapter reviews the advances in metabolomics, its integration with other omics approaches, and its applications, particularly emphasizing energy homeostasis. By incorporating metabolomic insights into physiology, we move closer to an integrative understanding of biological systems, laying the groundwork for novel therapies to combat obesity and related metabolic disorders.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"102-145"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Advances in GeneticsPub Date : 2025-01-01Epub Date: 2025-05-05DOI: 10.1016/bs.adgen.2025.03.001
Suhani Hingar, Marc Schneeberger Pané, María José Ortuño Romero
{"title":"Prader Willi syndrome: advances in genetics.","authors":"Suhani Hingar, Marc Schneeberger Pané, María José Ortuño Romero","doi":"10.1016/bs.adgen.2025.03.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2025.03.001","url":null,"abstract":"<p><p>Prader-Willi syndrome (PWS) is a complex genetic disorder arising from abnormalities on chromosome 15q11.2-q13, characterized by distinct physical, cognitive, and behavioral features that evolve across the lifespan. Early manifestations include severe hypotonia, feeding difficulties, and failure to thrive in infancy, progressing to hyperphagia, obesity, intellectual disabilities, and behavioral challenges in later stages. Additional features include growth hormone deficiency, short stature, delayed puberty, and other endocrine abnormalities. Genetic advances have illuminated the role of imprinted genes, such as SNORD116, in driving the syndrome's core features, offering insights into its variability and severity. Emerging research on targeted pathways, including oxytocin and ghrelin signaling, holds promise for innovative treatments addressing hyperphagia and behavioral symptoms. This chapter provides a comprehensive overview of PWS's clinical features, natural history, and molecular underpinnings, underscoring the importance of early diagnosis, multidisciplinary care, and precision medicine in optimizing outcomes and enhancing the quality of life for individuals with PWS.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"29-52"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Advances in GeneticsPub Date : 2025-01-01Epub Date: 2025-03-07DOI: 10.1016/bs.adgen.2025.02.004
Lana Pacheco Franco-Gedda, Renato Heidor, Maria Aderuza Horst
{"title":"Unraveling the interplay of genetic variants and epigenetic signatures in complex traits.","authors":"Lana Pacheco Franco-Gedda, Renato Heidor, Maria Aderuza Horst","doi":"10.1016/bs.adgen.2025.02.004","DOIUrl":"10.1016/bs.adgen.2025.02.004","url":null,"abstract":"<p><p>Complex traits, characterized by their reliance on multiple genetic variants and intricate environmental influences, present a unique challenge in the field of genetics. At the core of complex traits lies the interaction between numerous genetic variants-often polygenic in nature-and their regulation through epigenetic mechanisms. These mechanisms, which include DNA methylation, histone modification, and non-coding RNA activity, play a crucial role in gene expression and can significantly influence phenotypic outcomes. By examining how genetic and epigenetic elements interact, we can gain insight into the biological processes that underlie variation in complex traits. Ultimately, this chapter seeks to provide a comprehensive framework for understanding the multifaceted relationships between genetic and epigenetic factors in complex traits. By unraveling these interactions, we hope to pave the way for future research that can inform strategies for improving health outcomes and clinical practices.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"114 ","pages":"1-21"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144862656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Advances in GeneticsPub Date : 2025-01-01Epub Date: 2025-03-07DOI: 10.1016/bs.adgen.2025.02.002
Amanda Rodríguez-Díaz, Carlos Diéguez, Miguel López, Óscar Freire-Agulleiro
{"title":"FAcTs on fire: Exploring thermogenesis.","authors":"Amanda Rodríguez-Díaz, Carlos Diéguez, Miguel López, Óscar Freire-Agulleiro","doi":"10.1016/bs.adgen.2025.02.002","DOIUrl":"https://doi.org/10.1016/bs.adgen.2025.02.002","url":null,"abstract":"<p><p>Thermoregulation is a fundamental biological process that allows birds and mammals to maintain a stable internal temperature despite environmental fluctuations, a mechanism shaped by millions of years of evolution. Non-shivering thermogenesis (NST), primarily driven by brown adipose tissue (BAT), plays a central role in thermoregulation by not only helping maintain energy homeostasis but also influencing broader metabolic and physiological processes. Recent research has revealed that BAT thermogenesis is regulated by peripheral hormones and at a central level, with key hypothalamic energy-sensing pathways-such as AMP-activated protein kinase (AMPK) and endoplasmic reticulum (ER) stress-playing critical roles. Beyond its metabolic functions, BAT and NST have emerged as important contributors to tumor biology, offering novel therapeutic strategies for metabolic and oncological diseases. This review explores the intricate mechanisms underpinning NST, including UCP1-dependent thermogenesis and alternative pathways such as creatine cycling, calcium-dependent thermogenesis, and lipid cycling. Emerging evidence further highlights BAT's potential in to modulate tumor metabolism, with pharmacological and genetic approaches showing promise in reshaping the tumor microenvironment. This growing body of knowledge offers exciting prospects for targeting BAT thermogenesis in treating obesity and other metabolic diseases.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"172-198"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Advances in GeneticsPub Date : 2024-01-01Epub Date: 2024-09-20DOI: 10.1016/bs.adgen.2024.08.001
Iker Badiola
{"title":"What we need in colorectal cancer research, and why?","authors":"Iker Badiola","doi":"10.1016/bs.adgen.2024.08.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2024.08.001","url":null,"abstract":"<p><p>Cancer is a complex disease that includes tumour and healthy cells surrounding and infiltrating the tumour. During cancer development, tumour cells release many extracellular signals in an autocrine and paracrine way, producing deep phenotypic changes in the surrounding cells, becoming protumoral actors. The entire entity composed of tumour cells and the recruited elements is known as the tumour microenvironment. Immune cells, fibroblasts and endothelial cells, mainly with the extracellular matrix, are the most common elements in different cancer types and coexist in a complex balance of protumoral and antitumoral factors. In this context, the spatial disposition of the tumour microenvironment elements is crucial to knowing the role of each one in the disease development, and the multiplex spatial technology is the way to map the tumours. The combination of spatial study with transcriptomic, proteomic, and epigenomic studies is the most modern tool in the hands of cancer researchers, and it has opened a new era in the study of cancer biology.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"112 ","pages":"1-29"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Advances in GeneticsPub Date : 2024-01-01Epub Date: 2024-02-15DOI: 10.1016/bs.adgen.2024.01.001
Ildus I Ahmetov, George John, Ekaterina A Semenova, Elliott C R Hall
{"title":"Genomic predictors of physical activity and athletic performance.","authors":"Ildus I Ahmetov, George John, Ekaterina A Semenova, Elliott C R Hall","doi":"10.1016/bs.adgen.2024.01.001","DOIUrl":"10.1016/bs.adgen.2024.01.001","url":null,"abstract":"<p><p>Physical activity and athletic performance are complex phenotypes influenced by environmental and genetic factors. Recent advances in lifestyle and behavioral genomics led to the discovery of dozens of DNA polymorphisms (variants) associated with physical activity and allowed to use them as genetic instruments in Mendelian randomization studies for identifying the causal links between physical activity and health outcomes. On the other hand, exercise and sports genomics studies are focused on the search for genetic variants associated with athlete status, sports injuries and individual responses to training and supplement use. In this review, the findings of studies investigating genetic markers and their associations with physical activity and athlete status are reported. As of the end of September 2023, a total of 149 variants have been associated with various physical activity traits (of which 42 variants are genome-wide significant) and 253 variants have been linked to athlete status (115 endurance-related, 96 power-related, and 42 strength-related).</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"111 ","pages":"311-408"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sleep regulation and host genetics.","authors":"Adrián Odriozola, Adriana González, Jesús Álvarez-Herms, Francesc Corbi","doi":"10.1016/bs.adgen.2024.02.002","DOIUrl":"10.1016/bs.adgen.2024.02.002","url":null,"abstract":"<p><p>Due to the multifactorial and complex nature of rest, we focus on phenotypes related to sleep. Sleep regulation is a multifactorial process. In this chapter, we focus on those phenotypes inherent to sleep that are highly prevalent in the population, and that can be modulated by lifestyle, such as sleep quality and duration, insomnia, restless leg syndrome and daytime sleepiness. We, therefore, leave in the background those phenotypes that constitute infrequent pathologies or for which the current level of scientific evidence does not favour the implementation of practical approaches of this type. Similarly, the regulation of sleep quality is intimately linked to the regulation of the circadian rhythm. Although this relationship is discussed in the sections that require it, the in-depth study of circadian rhythm regulation at the molecular level deserves a separate chapter, and this is how it is dealt with in this volume.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"111 ","pages":"497-535"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Advances in GeneticsPub Date : 2024-01-01Epub Date: 2024-07-25DOI: 10.1016/bs.adgen.2024.05.002
Adriana González, Asier Fullaondo, Adrian Odriozola
{"title":"Microbiota-associated mechanisms in colorectal cancer.","authors":"Adriana González, Asier Fullaondo, Adrian Odriozola","doi":"10.1016/bs.adgen.2024.05.002","DOIUrl":"https://doi.org/10.1016/bs.adgen.2024.05.002","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is one of the most common cancers worldwide, ranking third in terms of incidence and second as a cause of cancer-related death. There is growing scientific evidence that the gut microbiota plays a key role in the initiation and development of CRC. Specific bacterial species and complex microbial communities contribute directly to CRC pathogenesis by promoting the neoplastic transformation of intestinal epithelial cells or indirectly through their interaction with the host immune system. As a result, a protumoural and immunosuppressive environment is created conducive to CRC development. On the other hand, certain bacteria in the gut microbiota contribute to protection against CRC. In this chapter, we analysed the relationship of the gut microbiota to CRC and the associations identified with specific bacteria. Microbiota plays a key role in CRC through various mechanisms, such as increased intestinal permeability, inflammation and immune system dysregulation, biofilm formation, genotoxin production, virulence factors and oxidative stress. Exploring the interaction between gut microbiota and tumourigenesis is essential for developing innovative therapeutic approaches in the fight against CRC.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"112 ","pages":"123-205"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142480027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Advances in GeneticsPub Date : 2024-01-01Epub Date: 2024-06-08DOI: 10.1016/bs.adgen.2024.01.002
Jesús Álvarez-Herms, Adrián Odriozola
{"title":"Microbiome and physical activity.","authors":"Jesús Álvarez-Herms, Adrián Odriozola","doi":"10.1016/bs.adgen.2024.01.002","DOIUrl":"10.1016/bs.adgen.2024.01.002","url":null,"abstract":"<p><p>Regular physical activity promotes health benefits and contributes to develop the individual biological potential. Chronical physical activity performed at moderate and high-intensity is the intensity more favorable to produce health development in athletes and improve the gut microbiota balance. The athletic microbiome is characterized by increased microbial diversity and abundance as well as greater phenotypic versatility. In addition, physical activity and microbiota composition have bidirectional effects, with regular physical activity improving microbial composition and microbial composition enhancing physical performance. The improvement of physical performance by a healthy microbiota is related to different phenotypes: i) efficient metabolic development, ii) improved regulation of intestinal permeability, iii) favourable modulation of local and systemic inflammatory and efficient immune responses, iv) efective regulation of systemic pH and, v) protection against acute stressful events such as environmental exposure to altitude or heat. The type of sport, both intensity or volume characteristics promote microbiota specialisation. Individual assessment of the state of the gut microbiota can be an effective biomarker for monitoring health in the medium to long term. The relationship between the microbiota and the rest of the body is bidirectional and symbiotic, with a full connection between the systemic functions of the nervous, musculoskeletal, endocrine, metabolic, acid-base and immune systems. In addition, circadian rhythms, including regular physical activity, directly influence the adaptive response of the microbiota. In conclusion, regular stimuli of moderate- and high-intensity physical activity promote greater diversity, abundance, resilience and versatility of the gut microbiota. This effect is highly beneficial for human health when healthy lifestyle habits including nutrition, hydration, rest, chronoregulation and physical activity.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"111 ","pages":"409-450"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Techniques, procedures, and applications in microbiome analysis.","authors":"Adriana González, Asier Fullaondo, Adrián Odriozola","doi":"10.1016/bs.adgen.2024.01.003","DOIUrl":"10.1016/bs.adgen.2024.01.003","url":null,"abstract":"<p><p>Microbiota is a complex community of microorganisms living in a defined environment. Until the 20th century, knowledge of microbiota was partial, as the techniques available for their characterization were primarily based on bacteriological culture. In the last twenty years, the development of DNA sequencing technologies, multi-omics, and bioinformatics has expanded our understanding of microorganisms. We have moved from mainly considering them isolated disease-causing agents to recognizing the microbiota as an essential component of host biology. These techniques have shown that the microbiome plays essential roles in various host phenotypes, influencing development, physiology, reproduction, and evolution. This chapter provides researchers with a summary of the primary concepts, sample collection, experimental techniques, and bioinformatics analysis commonly used in microbiome research. The main features, applications in microbiome studies, and their advantages and limitations are included in each section.</p>","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"111 ","pages":"81-115"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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