Advances in Genetics最新文献

Genetic underpinnnings of type 2 diabetes. 2型糖尿病的遗传基础。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-01-31 DOI: 10.1016/bs.adgen.2024.12.001

Aditya Shah, Clancy O Bush, Rachel J Perry

{"title":"Genetic underpinnnings of type 2 diabetes.","authors":"Aditya Shah, Clancy O Bush, Rachel J Perry","doi":"10.1016/bs.adgen.2024.12.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2024.12.001","url":null,"abstract":"Genetics is a significant risk factor for developing type 2 diabetes, with a family history conferring a 1.5-3-fold increased risk. Intriguingly, this heritable risk is higher when the affected parent is the mother, suggesting a potential role of mitochondrial genetics -maternally inherited DNA - in diabetes pathogenesis, a hypothesis this chapter will explore. While obesity mediates some of the genetic risk of type 2 diabetes, the chapter and will focus on genetic influences on diabetes independent of obesity. Mechanistically, genetic variants directly or indirectly contribute to insulin resistance across key tissues, including liver, muscle and adipose tissue. This insulin resistance prevents the liver from efficiently suppressing glucose production in response to insulin and impairs glucose uptake in muscle during postprandial states. Insulin resistance is driven by complex interactions between the genome and environmental, which can, in turn, influence gene expression and contribute to worsening of metabolic dysfunction. This chapter examines how tissue-specific genetic changes drive insulin resistance in individual organs and how these localized dysfunctions contribute to the broader, multi-organ metabolic dysfunction that characterize type 2 diabetes.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"54-75"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133300","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}

引用次数: 0

Retinal physiology in metabolic syndrome. 代谢综合征的视网膜生理学。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-02-05 DOI: 10.1016/bs.adgen.2024.11.002

David Meseguer García

引用次数: 0

Advances in energy balance & metabolism circuitry. 能量平衡与代谢电路的研究进展。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-03-06 DOI: 10.1016/bs.adgen.2025.02.003

Jose G Grajales-Reyes

引用次数: 0

Parkinson's disease and metabolic disorders, understanding their shared co-morbidity through the autonomic nervous system. 帕金森氏病和代谢性疾病，通过自主神经系统了解它们的共同发病率。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-03-06 DOI: 10.1016/bs.adgen.2025.02.001

Thanh N Pham, Rebecca E Schelling, Ken H Loh

{"title":"Parkinson's disease and metabolic disorders, understanding their shared co-morbidity through the autonomic nervous system.","authors":"Thanh N Pham, Rebecca E Schelling, Ken H Loh","doi":"10.1016/bs.adgen.2025.02.001","DOIUrl":"https://doi.org/10.1016/bs.adgen.2025.02.001","url":null,"abstract":"Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor dysfunctions. Its pathological hallmark is the aggregation of ɑ-synuclein in the central nervous system (CNS), leading to widespread loss of dopaminergic neurons in the substantia nigra (SN). Interestingly, metabolic disorders localized in the periphery, such as diabetes mellitus, frequently co-occur with PD. Emerging evidence highlights a bidirectional relationship: metabolic diseases may accelerate PD progression, while PD can exacerbate metabolic dysfunction. Beyond these associations, a growing body of research suggests that dysfunction in the peripheral nervous system, the primary communication bridge between the brain and peripheral organs, plays a critical role in these comorbidities. Autonomic nerve perturbation may accelerate dopaminergic neuronal loss in the SN and exacerbate metabolic dysregulation. This chapter synthesizes current evidence linking autonomic dysfunction with the progression of PD and related metabolic disorders, and it explores innovative therapeutic strategies leveraging this bidirectional relationship to address PD progression.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"199-247"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133306","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}

引用次数: 0

Neural mechanisms and health implications of food cravings during pregnancy. 怀孕期间食物渴望的神经机制和健康影响。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-01-31 DOI: 10.1016/bs.adgen.2024.12.002

Ayako Nakaki, Fàtima Crispi, Francesca Crovetto, Roberta Haddad-Tóvolli

{"title":"Neural mechanisms and health implications of food cravings during pregnancy.","authors":"Ayako Nakaki, Fàtima Crispi, Francesca Crovetto, Roberta Haddad-Tóvolli","doi":"10.1016/bs.adgen.2024.12.002","DOIUrl":"https://doi.org/10.1016/bs.adgen.2024.12.002","url":null,"abstract":"Food cravings, an intense desire to consume specific foods, are a complex interplay of cognitive, emotional, behavioral, physiological, and cultural factors. Although prevalent across genders, food cravings are more frequent and intense in women, with hormonal fluctuations-particularly during the menstrual cycle and pregnancy-playing a significant role. Pregnancy, marked by profound hormonal and physiological shifts, often heightens cravings, likely as a response to the increased metabolic needs of both mother and fetus. However, the tendency to crave high-calorie, palatable foods during this time can lead to excessive weight gain, presenting potential risks to both maternal and fetal health. This chapter examines the neural mechanisms underlying altered eating behaviors during pregnancy and their role in triggering food cravings. We discuss the health implications of disrupted eating patterns in pregnancy, emphasizing the need for further research to advance understanding of female-specific neurobiology and to develop targeted interventions that support healthy eating behaviors, ultimately improving maternal and offspring health outcomes.","PeriodicalId":50949,"journal":{"name":"Advances in Genetics","volume":"113 ","pages":"146-171"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144133303","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}

引用次数: 0

From metabolomics to energy balance physiology. 从代谢组学到能量平衡生理学。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2024-12-16 DOI: 10.1016/bs.adgen.2024.11.001

María José Ortuño Romero, Daxiang Na

引用次数: 0

Prader Willi syndrome: advances in genetics. Prader Willi综合征：遗传学进展。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-05-05 DOI: 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":"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.","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}

引用次数: 0

FAcTs on fire: Exploring thermogenesis. 着火的事实：探索生热作用。

4区生物学

Advances in Genetics Pub Date : 2025-01-01 Epub Date: 2025-03-07 DOI: 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":"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.","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}

引用次数: 0

What we need in colorectal cancer research, and why? 大肠癌研究需要什么，为什么？

4区生物学

Advances in Genetics Pub Date : 2024-01-01 Epub Date: 2024-09-20 DOI: 10.1016/bs.adgen.2024.08.001

Iker Badiola

引用次数: 0

Genomic predictors of physical activity and athletic performance. 体力活动和运动成绩的基因组预测因素。

4区生物学

Advances in Genetics Pub Date : 2024-01-01 Epub Date: 2024-02-15 DOI: 10.1016/bs.adgen.2024.01.001

Ildus I Ahmetov, George John, Ekaterina A Semenova, Elliott C R Hall

引用次数: 0