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A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome 一个假设代谢对 16p11.2 缺失综合征的影响
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-29 DOI: 10.1002/bies.202400177
Brandon Kar Meng Choo, Sarah Barnes, Hazel Sive
{"title":"A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome","authors":"Brandon Kar Meng Choo,&nbsp;Sarah Barnes,&nbsp;Hazel Sive","doi":"10.1002/bies.202400177","DOIUrl":"https://doi.org/10.1002/bies.202400177","url":null,"abstract":"<p>16p11.2 deletion syndrome is a severe genetic disorder associated with the deletion of 27 genes from a Copy Number Variant region on human chromosome 16. Symptoms associated include cognitive impairment, language and motor delay, epilepsy or seizures, psychiatric disorders, autism spectrum disorder (ASD), changes in head size and body weight, and dysmorphic features, with a crucial need to define genes and mechanisms responsible for symptomatology. In this review, we analyze the clinical associations and biological pathways of 16p11.2 locus genes and identify that a majority of 16p11.2 genes relate to metabolic processes. We present a hypothesis in which changes in the dosage of 16p11.2 metabolic genes contribute to pathology through direct or indirect alterations in pathways that include amino acids or proteins, DNA, RNA, catabolism, lipid, energy (carbohydrate). This hypothesis suggests that research into the specific roles of each metabolic gene will help identify useful therapeutic targets.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202400177","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143475848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target 1型强直性肌营养不良的新视野：细胞衰老作为治疗靶点。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-26 DOI: 10.1002/bies.202400216
Cécilia Légaré, J. Andrew Berglund, Elise Duchesne, Nicolas A. Dumont
{"title":"New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target","authors":"Cécilia Légaré,&nbsp;J. Andrew Berglund,&nbsp;Elise Duchesne,&nbsp;Nicolas A. Dumont","doi":"10.1002/bies.202400216","DOIUrl":"10.1002/bies.202400216","url":null,"abstract":"<p>Myotonic dystrophy type 1 (DM1) is considered a progeroid disease (i.e., causing premature aging). This hypervariable disease affects multiple systems, such as the musculoskeletal, central nervous, gastrointestinal, and others. Despite advances in understanding the underlying pathogenic mechanism of DM1, numerous gaps persist in our understanding, hindering elucidation of the heterogeneity and severity of its symptoms. Accumulating evidence indicates that the toxic intracellular RNA accumulation associated with DM1 triggers cellular senescence. These cells are in a state of irreversible cell cycle arrest and secrete a cocktail of cytokines, referred to as a senescence-associated secretory phenotype (SASP), that can have harmful effects on neighboring cells and more broadly. We hypothesize that cellular senescence contributes to the pathophysiology of DM1, and clearance of senescent cells is a promising therapeutic approach for DM1. We will discuss the therapeutic potential of different senotherapeutic drugs, especially senolytics that eliminate senescent cells, and senomorphics that reduce SASP expression.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202400216","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neuropeptides: The Evergreen Jack-of-All-Trades in Neuronal Circuit Development and Regulation 神经肽：神经元回路发育和调控的常青树万能钥匙。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-26 DOI: 10.1002/bies.202400238
Zsofia Hevesi, Tomas Hökfelt, Tibor Harkany
{"title":"Neuropeptides: The Evergreen Jack-of-All-Trades in Neuronal Circuit Development and Regulation","authors":"Zsofia Hevesi,&nbsp;Tomas Hökfelt,&nbsp;Tibor Harkany","doi":"10.1002/bies.202400238","DOIUrl":"10.1002/bies.202400238","url":null,"abstract":"<p>Neuropeptides are key modulators of adult neurocircuits, balancing their sensitivity to both excitation and inhibition, and fine-tuning fast neurotransmitter action under physiological conditions. Here, we reason that transient increases in neuropeptide availability and action exist during brain development for synapse maturation, selection, and maintenance. We discuss fundamental concepts of neuropeptide signaling at G protein-coupled receptors (GPCRs), with a particular focus on how signaling at neuropeptide GPCRs could underpin neuronal morphogenesis. We use galanin, a 29/30 amino acid-long neuropeptide, as an example for its retrograde release from the dendrites of thalamic neurons to impact the selection and wiring of sensory afferents originating at the trigeminal nucleus through galanin receptor 1 (GalR<sub>1</sub>) engagement. Thus, we suggest novel roles for neuropeptides, expressed transiently or permanently during both pre- and postnatal neuronal circuit development, with potentially life-long effects on circuit layout and ensuing behavioral operations.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202400238","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thermosensory Roles of G Protein-Coupled Receptors and Other Cellular Factors in Animals G蛋白偶联受体和其他细胞因子在动物热感觉中的作用。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-26 DOI: 10.1002/bies.202400233
Kohei Ohnishi, Takaaki Sokabe
{"title":"Thermosensory Roles of G Protein-Coupled Receptors and Other Cellular Factors in Animals","authors":"Kohei Ohnishi,&nbsp;Takaaki Sokabe","doi":"10.1002/bies.202400233","DOIUrl":"10.1002/bies.202400233","url":null,"abstract":"<p>In this review, we introduce the concept of “dual thermosensing mechanisms,” highlighting the functional collaboration between G protein-coupled receptors (GPCRs) and transient receptor potential (TRP) channels that enable sophisticated cellular thermal responsiveness. GPCRs have been implicated in thermosensory processes, with recent findings identifying several candidates across species, including mammals, fruit flies, and nematodes. In many cases, these GPCRs work in conjunction with another class of thermosensors, TRP channels, offering insights into the complex mechanisms underlying thermosensory signaling. We examine how GPCRs function as thermosensors and how their signaling regulates cellular thermosensation, illustrating the complexity of thermosensory systems. Understanding these dual thermosensory mechanisms would advance our comprehension of cellular thermosensation and its regulatory pathways.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202400233","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Issue Information: BioEssays 1/2025 期刊信息：BioEssays 1/2025
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-20 DOI: 10.1002/bies.202570001
{"title":"Issue Information: BioEssays 1/2025","authors":"","doi":"10.1002/bies.202570001","DOIUrl":"https://doi.org/10.1002/bies.202570001","url":null,"abstract":"","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202570001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142868913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Compensated Clock: Temperature and Nutritional Compensation Mechanisms Across Circadian Systems 补偿时钟：昼夜节律系统的温度和营养补偿机制。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-18 DOI: 10.1002/bies.202400211
Elizabeth-Lauren Stevenson, Adrienne K. Mehalow, Jennifer J. Loros, Christina M. Kelliher, Jay C. Dunlap
{"title":"A Compensated Clock: Temperature and Nutritional Compensation Mechanisms Across Circadian Systems","authors":"Elizabeth-Lauren Stevenson,&nbsp;Adrienne K. Mehalow,&nbsp;Jennifer J. Loros,&nbsp;Christina M. Kelliher,&nbsp;Jay C. Dunlap","doi":"10.1002/bies.202400211","DOIUrl":"10.1002/bies.202400211","url":null,"abstract":"<div>\u0000 \u0000 <p>Circadian rhythms are ∼24-h biological oscillations that enable organisms to anticipate daily environmental cycles, so that they may designate appropriate day/night functions that align with these changes. The molecular clock in animals and fungi consists of a transcription-translation feedback loop, the plant clock is comprised of multiple interlocking feedback-loops, and the cyanobacterial clock is driven by a phosphorylation cycle involving three main proteins. Despite the divergent core clock mechanisms across these systems, all circadian clocks are able to buffer period length against changes in the ambient growth environment, such as temperature and nutrients. This defining capability, termed compensation, is critical to proper timekeeping, yet the underlying mechanism(s) remain elusive. Here we examine the known players in, and the current models for, compensation across five circadian systems. While compensation models across these systems are not yet unified, common themes exist across them, including regulation via temperature-dependent changes in post-translational modifications.</p>\u0000 </div>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Perspective on Death: A Gateway to a New Biology 死亡视角：通往新生物学的大门。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-17 DOI: 10.1002/bies.202400158
Peter A. Noble, Alexander Pozhitkov
{"title":"Perspective on Death: A Gateway to a New Biology","authors":"Peter A. Noble,&nbsp;Alexander Pozhitkov","doi":"10.1002/bies.202400158","DOIUrl":"10.1002/bies.202400158","url":null,"abstract":"<div>\u0000 \u0000 <p>Organismal death has long been considered the irreversible ending of an organism's integrated functioning as a whole. However, the persistence of functionality in organs, tissues, and cells postmortem, as seen in organ donation, raises questions about the mechanisms underlying this resilience. Recent research reveals that various factors, such as environmental conditions, metabolic activity, and inherent survival mechanisms, influence postmortem cellular functionality and transformation. These findings challenge our understanding of life and death, highlighting the potential for certain cells to grow and form new multicellular entities. This opens new avenues in biology and medicine, expanding our comprehension of life's complexity.</p>\u0000 </div>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142833900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Circadian Control of Protein Synthesis 蛋白质合成的昼夜节律控制。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-12 DOI: 10.1002/bies.202300158
Nathan R. James, John S. O'Neill
{"title":"Circadian Control of Protein Synthesis","authors":"Nathan R. James,&nbsp;John S. O'Neill","doi":"10.1002/bies.202300158","DOIUrl":"10.1002/bies.202300158","url":null,"abstract":"<p>Daily rhythms in the rate and specificity of protein synthesis occur in most mammalian cells through an interaction between cell-autonomous circadian regulation and daily cycles of systemic cues. However, the overall protein content of a typical cell changes little over 24 h. For most proteins, translation appears to be coordinated with protein degradation, producing phases of proteomic renewal that maximize energy efficiency while broadly maintaining proteostasis across the solar cycle. We propose that a major function of this temporal compartmentalization—and of circadian rhythmicity in general—is to optimize the energy efficiency of protein synthesis and associated processes such as complex assembly. We further propose that much of this temporal compartmentalization is achieved at the level of translational initiation, such that the translational machinery alternates between distinct translational mechanisms, each using a distinct toolkit of phosphoproteins to preferentially recognize and translate different classes of mRNA.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202300158","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
How Small Proteins Adjust the Metabolism of Cyanobacteria Under Stress 小蛋白如何调节应激下蓝藻的代谢：小蛋白在蓝藻应激反应中的作用。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-12 DOI: 10.1002/bies.202400245
Alexander Kraus, Wolfgang R. Hess
{"title":"How Small Proteins Adjust the Metabolism of Cyanobacteria Under Stress","authors":"Alexander Kraus,&nbsp;Wolfgang R. Hess","doi":"10.1002/bies.202400245","DOIUrl":"10.1002/bies.202400245","url":null,"abstract":"<p>Several recently discovered small proteins of less than 100 amino acids control important, but sometimes surprising, steps in the metabolism of cyanobacteria. There is mounting evidence that a large number of small protein genes have also been overlooked in the genome annotation of many other microorganisms. Although too short for enzymatic activity, their functional characterization has frequently revealed the involvement in processes such as signaling and sensing, interspecies communication, stress responses, metabolism, regulation of transcription and translation, and in the formation of multisubunit protein complexes. Cyanobacteria are the only prokaryotes that perform oxygenic photosynthesis. They thrive under a wide variety of conditions as long as there is light and must cope with dynamic changes in the environment. To acclimate to these fluctuations, frequently small regulatory proteins become expressed that target key enzymes and metabolic processes. The consequences of their actions are profound and can even impact the surrounding microbiome. This review highlights the diverse functions of recently discovered small proteins that control cyanobacterial metabolism. It also addresses why many of these proteins have been overlooked so far and explores the potential for implementing metabolic engineering strategies to improve the use of cyanobacteria in biotechnological applications.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 3","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202400245","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phagocytosis by the retinal pigment epithelium: New insights into polarized cell mechanics 视网膜色素上皮的吞噬作用：极化细胞力学的新见解。
IF 3.2 3区 生物学
BioEssays Pub Date : 2024-12-11 DOI: 10.1002/bies.202300197
Ceniz Zihni
{"title":"Phagocytosis by the retinal pigment epithelium: New insights into polarized cell mechanics","authors":"Ceniz Zihni","doi":"10.1002/bies.202300197","DOIUrl":"10.1002/bies.202300197","url":null,"abstract":"<p>The retinal pigment epithelium (RPE) is a specialized epithelium at the back of the eye that carries out a variety of functions essential for visual health. Recent studies have advanced our molecular understanding of one of the major functions of the RPE; phagocytosis of spent photoreceptor outer segments (POS). Notably, a mechanical link, formed between apical integrins bound to extracellular POS and the intracellular actomyosin cytoskeleton, is proposed to drive the internalization of POS. The process may involve a “nibbling” action, as an initial step, to sever outer segment tips. These insights have led us to hypothesize an “integrin adhesome-like” network, atypically assembled at apical membrane RPE-POS contacts. I propose that this hypothetical network orchestrates the complex membrane remodeling events required for particle internalization. Therefore, its analysis and characterization will likely lead to a more comprehensive understanding of the molecular mechanisms that control POS phagocytosis.</p>","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":"47 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bies.202300197","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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