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Genes linked to obesity-related infertility:bridging the knowledge gap

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Reproductive and Developmental Medicine 2024年第2期8卷 121-129页

作者： Praveen Kumar Chandra Sekar Ramakrishnan Veerabathiran human Cytogenetics and genomics Laboratory Faculty of Allied Health SciencesChettinad Academy of Research and EducationKelambakkamTamil Nadu 603103India

Genetic factors play a pivotal role in the complex relationship between obesity and *** article delves into the genetics of obesity-related infertility,focusing on the essential genes and mechanisms in both *** explored infertility factors in obese females,focusing on polycystic ovary syndrome(PCOS)and the influence of genes like insulin receptor(INSR),androgen receptor(AR),and follicle-stimulating hormone receptor(FSHR).Epigenetic changes are believed to contribute to PCOS-related *** impact of adipokines and inflammation on obesity-related infertility has been discussed,with genes such as fat mass and obesity(FTO)and melanocortin-4-receptor(MC4R)playing significant *** factors affecting sperm quality and function,including nuclear receptor subfamily 3 group C member 1(NR3C1)and methylenetetrahydrofolate reductase(MTHFR),have been investigated in obesity-related infertility in *** dysregulation influenced by genetic markers,such as leptin receptor(LEPR),tumor necrosis factor-alpha(TNF-α),and interleukin-6(IL-6),was also *** factors play a vital role in obesity-related infertility in both *** involved in metabolism,hormonal regulation,and inflammation contribute to the complex association between obesity and *** changes further complicate the *** these genetic mechanisms is essential to address obesity-related infertility and develop personalized interventions.

关键词： Obesity Infertility PCOS DNA methylation Epigenetics

An Extensive Review of Vitiligo-Associated Conditions

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International Journal of Dermatology and Venereology 2024年第1期7卷 44-51页

作者： Madhavi Premkumar Iyshwarya Bhaskar Kalarani Vajagathali Mohammed Ramakrishnan Veerabathiran human Cytogenetics and genomics Laboratory Faculty of Allied Health SciencesChettinad Hospital and Research InstituteChettinad Academy of Research and EducationKelambakkamTamil Nadu 603103India

Vitiligo is an autoimmune disorder caused by the destruction of melanocytes in various body *** diseases may accompany *** prevalence of vitiligo varies among geographical regions and shows no relation to sex or ***,vitiligo most commonly affects people aged 10 to 30 *** clinical symptoms of vitiligo include irregular patches on the skin and various diseases associated with this *** present review focuses on the clinical effects and risk factors of vitiligo-associated conditions and the current therapeutics for treating *** systematic review was performed based on the PRISMA guidelines and articles published from 2000 to 2023 in Web of Science,PubMed,PsycINFO,and *** most clinically significant diseases associated with vitiligo are alopecia areata,autoimmune thyroid disease,Addison disease,and type 1 diabetes *** targeted population is specifically prone to vitiligo;it does not affect any particular race or ***,awareness of the diseases associated with vitiligo is necessary to control them through various medical and surgical treatments with the proper facilities.

关键词： vitiligo autoimmune disorder melanocyte Addison disease atopic dermatitis

Genetic Basis for Mucormycosis Progression in COVID-19 Patients:From Susceptibility to Severity

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Infectious Diseases & Immunity 2024年第2期4卷 86-92页

作者： Jethendra Kumar Muruganantham Ramakrishnan Veerabathiran human Cytogenetics and genomics Laboratory Faculty of Allied Health SciencesChettinad Hospital and Research InstituteChettinad Academy of Research and EducationKelambakkamTamilnadu 603103India.

The dynamics of COVID-19 and mucormycosis reveal a complex interplay of genetic factors that influence the susceptibility,severity,and immune ***-19,caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),exhibits an increased incidence of mucormycosis,particularly in individuals with comorbidities or corticosteroid *** is a fungal infection that affects the sinuses,orbits,and lungs and demands timely intervention with antifungal medications and surgery because of its life-threatening *** on the genetic underpinnings of this intersection has unveiled key insights into the pathogenicity of *** in genetic tools have exposed virulence factors,such as the CotH protein family and high-affinity iron-uptake *** susceptibility is a pivotal element in identifying individuals at risk of developing COVID-19,facilitating early detection,and allowing for personalized treatment ***9,MIF,and TYK2 are among the genes implicated in COVID-19 severity,emphasizing the intricate relationship between genetic makeup and viral *** genetic landscape extends to viral entry mechanisms,thereby affecting infection *** polymorphisms in genes such as IFNAR2,OAS3,and TYK2 are associated with COVID-19 severity,indicating shared genetic bases between severe and hospitalized *** is genetically predisposed,particularly in immunocompromised *** challenge lies in understanding the genetic factors influencing susceptibility and offering insights into pathogenesis and potential therapeutic *** transplantation adds another layer,increasing susceptibility to infections such as COVID-19 and *** impact of immunosuppression on COVID-19 severity remains elusive,necessitating ongoing research on the immunological *** the challenges posed by emerging SARSCoV-2 variants,the intricate connection between genetic factors and the

关键词： COVID-19 Mucormycosis Pathogenesis Genetics basis

Neuron-to-astrocyte proteostatic stress signaling in response to tau pathology

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Neural Regeneration Research 2024年第3期19卷 505-506页

作者： Kevin Llewelyn Batenburg Wiep Scheper Amsterdam UMC location Vrije Universiteit Amsterdam Department of Human GeneticsAmsterdam Neuroscience-NeurodegenerationAmsterdamThe Netherlands Department of Functional genomics Center for Neurogenomics and Cognitive ResearchVrije Universiteit AmsterdamAmsterdam Neuroscience-NeurodegenerationAmsterdamThe Netherlands

Maintenance of protein homeostasis or“proteostasis”is essential for the functioning and viability of *** is in particular the case for cells like neurons that cannot self-renew and acquire unique functional properties during their *** proteostatic stress responses are in place to protect cells from damage in case of proteostatic *** integrated stress response(ISR)is one of the key proteostatic stress responses in the cell(Costa-Mattioli and Walter,2020).The ISR is the downstream convergence point for the four stress-induced eIF2αkinases(EIF2AK1-4)that control stress-regulated protein translation via phosphorylation of the translation factor eIF2α.ISR activation results in a transient reduction of global translation while it concomitantly enhances the translation of specific mRNAs,including that encoding the activating transcription factor 4(ATF4).Together,the translational control mediated by the ISR results in a temporary reduction of the overall protein load and the selectively increased expression of proteins that contribute to restoration of the proteostatic balance.

关键词： translation stress Together

Rice ONAC016 promotes leaf senescence through abscisic acid signaling pathway involving OsNAP

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The Crop Journal 2024年第3期12卷 709-720页

作者： Eunji Gi Sung-Hwan Cho Suk-Hwan Kim Kiyoon Kang Nam-Chon Paek Department of Agriculture Forestry and BioresourcesPlant Genomics and Breeding InstituteResearch Institute of Agriculture and Life SciencesSeoul National UniversitySeoul 08826Republic of Korea division of Life Sciences Incheon National UniversityIncheon 22012Republic of Korea

Senescence-induced NAC(senNAC)TFs play a crucial role in senescence during the final stage of leaf *** this study,we identified a rice senNAC,ONAC016,which functions as a positive regulator of leaf *** expression of ONAC016 increased rapidly in rice leaves during the progression of dark-induced and natural *** onac016-1 knockout mutant showed a delayed leaf yellowing phenotype,whereas the overexpression of ONAC016 accelerated leaf ***,ONAC016 expression was upregulated by abscisic acid(ABA),and thus detached leaves of the onac016-1 mutant remained green much longer under ABA *** RT-PCR analysis showed that ONAC016 upregulates the genes associated with chlorophyll degradation,senescence,and ABA *** one-hybrid and dual-luciferase assays revealed that ONAC016 binds directly to the promoter regions of OsNAP,a key gene involved in chlorophyll degradation and ABA-induced *** together,these results suggest that ONAC016 plays an important role in promoting leaf senescence through the ABA signaling pathway involving OsNAP.

关键词： Rice ONAC016 OsNAP Leaf senescence Abscisic acid signaling

A metabolic signalling role for arginine in liver cancer

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Life Metabolism 2024年第1期3卷 1-3页

作者： David Sokolov Lucas B.Sullivan human Biology division Fred Hutchinson Cancer CenterSeattleWA 98109United States

In addition to their canonical roles in biosynthetic pathways,metabolites can be active participants in oncogenic signal-ling,but our understanding of these signalling mechanisms is *** a recent article published in Cell,Mossmann et *** a novel signalling role for accumulated arginine in hepato-cellular carcinoma(HCC)mediated by the RNA splicing factor and transcriptional modifier RNA-binding protein 39(RBM39).

关键词： al. incomplete cancer

Decoding the Cellular Trafficking of Prion-like Proteins in Neurodegenerative Diseases

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Neuroscience Bulletin 2024年第2期40卷 241-254页

作者： Chenjun Hu Yiqun Yan Yanhong Jin Jun Yang Yongmei Xi Zhen Zhong Department of Neurology of the Second Afliated Hospital and Department of human Anatomy Histology and EmbryologyZhejiang University School of MedicineHangzhou 310058China Department of Physiology and Department of Cardiology of the Second Afliated Hospital Zhejiang University School of MedicineHangzhou 310058China division of human Reproduction and Developmental Genetics Women’s Hospital and Institute of GeneticsZhejiang University School of MedicineHangzhou 310006China

The accumulation and spread of prion-like proteins is a key feature of neurodegenerative diseases(NDs)such as Alzheimer’s disease,Parkinson's disease,or Amyotrophic Lateral *** a process known as‘seeding’,prion-like proteins such as amyloid beta,microtubule-associated protein tau,α-synuclein,silence superoxide dismutase 1,or transactive response DNA-binding protein 43 kDa,propagate their misfolded conformations by transforming their respective soluble monomers into *** and molecular evidence of prion-like propagation in NDs,the clinical relevance of their‘seeding’capacities,and their levels of contribution towards disease progression have been intensively studied over recent *** review unpacks the cyclic prion-like propagation in cells including factors of aggregate internalization,endo-lysosomal leaking,aggregate degradation,and *** on the importance of the role of prion-like protein aggregates in NDs,whether causal or consequent,are also *** lead to a greater understanding of ND pathogenesis and increased potential for therapeutic strategies.

关键词： Neurodegenerative diseases Prion-like propagation Seeding Endocytosis Endolyosomal leaking Degradation

Combining QTL Mapping and Multi-Omics Identify Candidate Genes for Nutritional Quality Traits during Grain Filling Stage in Maize

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Phyton-International Journal of Experimental Botany 2024年第7期93卷 1441-1453页

作者： Pengcheng Li Tianze Zhu Yunyun Wang Shuangyi Yin Xinjie Zhu Minggang Ji Wenye Rui Houmiao Wang Zefeng Yang Chenwu Xu Jiangsu Key Laboratory of Crop Genetics and Physiology Key Laboratory of Plant Functional Genomics of the Ministry of EducationJiangsu Key Laboratory of Crop Genomics and Molecular BreedingAgricultural College of Yangzhou UniversityYangzhou225009China Jiangsu Co-Innovation Center for Modern Production Technology of Grain Crops Yangzhou UniversityYangzhou225009China

The nutritional composition and overall quality of maize kernels are largely determined by the key chemical com-ponents:protein,oil,and ***,the genetic basis underlying these nutritional quality traits during grainﬁlling remains poorly *** this study,the concentrations of protein,oil,and starch were studied in 204 recombinant inbred lines resulting from a cross between DH1M and T877 at four different stages *** the traits exhibited considerable phenotypic *** the grain-ﬁlling stage,the levels of protein and starch content generally increased,whereas oil content decreased,with signiﬁcant changes observed between 30 and 40 days after *** trait locus(QTL)mapping was conducted and a total of 32 QTLs,comprising 14,12,and 6 QTLs for grain protein,oil,and starch content were detected,*** QTLs were consistently detectable across different time *** integrating QTL analysis,glo-bal gene expression proﬁling,and comparative genomics,we identiﬁed 157,86,and 54 differentially expressed genes harboring nonsynonymous substitutions between the parental lines for grain protein,oil,and starch con-tent,*** gene function annotation prioritized 15 candidate genes potentially involved in reg-ulating grain quality traits,including those encoding transcription factors(NAC,MADS-box,bZIP,and MYB),cell wall invertase,cellulose-synthase-like protein,cell division cycle protein,trehalase,auxin-responsive factor,and phloem protein *** study offers signiﬁcant insights into the genetic architecture of maize kernel nutritional quality and identiﬁes promising QTLs and candidate genes,which are crucial for the genetic enhance-ment of these traits in maize breeding programs.

关键词： Maize protein oil starch QTL mapping candidate genes

Femoral Access with Ultrasound-Guided Puncture and Z-Stitch Hemostasis for Adults with Congenital Heart Diseases Undergoing Electrophysiological Procedures

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Congenital Heart Disease 2024年第1期19卷 85-92页

作者： Fu Guan Matthias Gass Florian Berger Heiko Schneider Firat Duru Thomas Wolber Arrhythmia and Electrophysiology division Department of CardiologyUniversity Heart Center ZurichZurichSwitzerland Children’s Research Center Zurich University Children’s HospitalZurichSwitzerland Center for Integrative human Physiology University of ZurichZurichSwitzerland

Aims:Although the application of ultrasound-guided vascular puncture and Z-stitch hemostasis to manage femoral access has been widely utilized,there is limited data on this combined application in adult congenital heart disease(ACHD)patients undergoing electrophysiological(EP)*** sought to evaluate the safety and efﬁcacy of ultrasound-guided puncture and postprocedural Z-stitch hemostasis for ACHD patients under-going EP *** and Results:The population of ACHD patients undergoing transfemoral EP pro-cedures at the University of Zurich Heart Center between January 2019 and December 2022 was observed and *** the study period,femoral access(left/right,arterial/venous)was performed under real-time ultrasound *** the end of the procedure,a single Z-stitch was performed at the puncture *** eval-uated the incidence of in-hospital complications associated with femoral access puncture in this *** 101 patients who had a total of 147 previous ipsilateral vascular punctures(mean 1.5 per person),100 patients underwent successful femoral vascular access for EP *** median age of the patients was 47±15 years and 34(34%)were male.Z-stitches were performed after the procedure in 100 patients with 303 femoral vascular accesses(mean 3 punctures per person).No patient developed vascular puncture relevant inguinal hematoma,pseudo aneurysm,arteriovenousﬁstula,venous or arterial ***:In ACHD patients undergoing EP procedures,optimal femoral access management can be achieved with ultra-sound-guided puncture and postprocedural Z-stitch hemostasis.

关键词： Congenital heart disease cardiac electrophysiology cardiac catheterization femoral access hemostasis