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Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community:In search of shared genetic markers

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Genes & Diseases 2024年第4期11卷 106-108页

作者： Gloria Garavito-de Egea Alex Dominguez-Vargas Jorg e l.Velez Gustavo Aroca Luis Fagng Elkin Navarro-Quiroz Zilac Espitaleta Kenny del Toro-Camargo Leticia Martinez-Ariza Tatiana Gonzalez-Vargas Susana Garcia Mauricio Arcos-Burgos Eduardo Egea Universidad del Norte Division Ciencias de la SaludBarranquillaColombia Universidad Simon Bolivar Facultad de Ciencias de la SaludBarranquillaColombia Clinica de la Costa Grupo de Investigacion en NefrologiaBarranquillaColombia Universidad de Antioquia Grupo de Investigacion en Psiquiatria(GIPSI)Departamento de PsiquiatriaInstituto de Investigaciones MedicasFacultad de MedicinaMedellinColombia

Genome-wide association studies(GWASs)have identified hundreds of loci across the human genome conferring susceptibility to autoimmune diseases(AIDs),some of which are shared between more than two diseases.However,thi... 详细信息

关键词： susceptibility diseases diabetes

Genetic and epigenetic targets of natural dietary compounds as anti-Alzheimer's agents

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Neural Regeneration Research 2024年第4期19卷 846-854页

作者： Willian Orlando Castillo-Ordoñez Nohelia Cajas-Salazar Mayra Alejandra Velasco-Reyes facultad de Ciencias Naturales-Exactas y de la Educación Departamento de Biología.Universidad del Cauca departamento de Estudios Psicológicos Universidad Icesi

Alzheimer’s disease is a progressive neurodegenerative disorder and the most common cause of dementia that principally affects older adults.Pathogenic factors,such as oxidative stress,an increase in acetylcholinesterase activity,mitochondrial dysfunction,genotoxicity,and neuroinflammation are present in this syndrome,which leads to neurodegeneration.Neurodegenerative pathologies such as Alzheimer’s disease are considered late-onset diseases caused by the complex combination of genetic,epigenetic,and environmental factors.There are two main types of Alzheimer’s disease,known as familial Alzheimer’s disease(onsetdelian anomalies suggesting an epigenetic component in its etiology.Importantly,the fundamental pathophysiological mechanisms driving Alzheimer’s disease are interfaced with epigenetic dysregulation.However,the dynamic nature of epigenetics seems to open up new avenues and hope in regenerative neurogenesis to improve brain repair in Alzheimer’s disease or following injury or stroke in humans.In recent years,there has been an increase in interest in using natural products for the treatment of neurodegenerative illnesses such as Alzheimer’s disease.Through epigenetic mechanisms,such as DNA methylation,non-coding RNAs,histone modification,and chromatin conformation regulation,natural compounds appear to exert neuroprotective effects.While we do not purport to cover every in this work,we do attempt to illustrate how various phytochemical compounds regulate the epigenetic effects of a few Alzheimer’s disease-related genes.

关键词： Alzheimer’s disease epigenetics genes methylation natural products

Role of lipids in the control of autophagy and primary cilium signaling in neurons

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Neural Regeneration Research 2024年第2期19卷 264-271页

作者： María Paz Hernández-Cáceres Daniela Pinto-Nuñez Patricia Rivera Paulina Burgos Francisco Díaz-Castro Alfredo Criollo Maria Jose Yañez Eugenia Morselli Instituto de Investigación en Ciencias Odontológicas(ICOD) Facultad de OdontologíaUniversidad de ChileSantiagoChile department of Basic Sciences Faculty of Medicine and ScienceUniversidad San SebastiánSantiagoChile Physiology department Faculty of Biological SciencesPontificia Universidad Católica de ChileSantiagoChile Advanced Center for Chronic Diseases(ACCDiS) Facultad de Ciencias Químicas y Farmacéuticas&Facultad de MedicinaUniversidad de ChileSantiagoChile Autophagy Research Center SantiagoChile

The brain is,after the adipose tissue,the organ with the greatest amount of lipids and diversity in their composition in the human body.In neurons,lipids are involved in signaling pathways controlling autophagy,a lysosome-dependent catabolic process essential for the maintenance of neuronal homeostasis and the function of the primary cilium,a cellular antenna that acts as a communication hub that transfers extracellular signals into intracellular responses required for neurogenesis and brain development.A crosstalk between primary cilia and autophagy has been established;however,its role in the control of neuronal activity and homeostasis is barely known.In this review,we briefly discuss the current knowledge regarding the role of autophagy and the primary cilium in neurons.Then we review the recent literature about specific lipid subclasses in the regulation of autophagy,in the control of primary cilium structure and its dependent cellular signaling in physiological and pathological conditions,specifically focusing on neurons,an area of research that could have major implications in neurodevelopment,energy homeostasis,and neurodegeneration.

关键词： autophagic flux cholesterol fatty acids GPCR lysosomal storage diseases neurons NPC1 phosphoinositides primary cilium

Hydroxytyrosol and Parkinson's disease:protective actions against alpha-synuclein toxicity

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Neural Regeneration Research 2024年第7期19卷 1427-1428页

作者： Ruth Hornedo-Ortega Ana M.Espinosa-Oliva departamento de Nutrición y Bromatología Toxicología y Medicina LegalFacultad de FarmaciaUniversidad de SevillaSevilleSpain Instituto de Biomedicina de Sevilla IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de SevillaSevillaSpain departamento de Bioquímica y Biología Molecular Facultad de FarmaciaUniversidad de SevillaSevillaSpain

Parkinson’s disease:Parkinson’s disease(PD) is the second most prevalent neurodegenerative disease,after Alzheimer’s disease,affecting 1%of the general population over the age of 65years.According to data from the World Health Organization(WHO),its prevalence has doubled in the past 25 years.In 2019,global estimates indicated over 8.5 million individuals with PD and it is suggested that PD caused 329000 deaths,an increase of over 100% since 2000(WHO,2022).

关键词： protective Alzheimer prevalence

Interplay between mesenchymal stromal cells and the immune system after transplantation: implications for advanced cell therapy in the retina

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Neural Regeneration Research 2024年第3期19卷 542-547页

作者： María Norte-Muñoz David García-Bernal Diego García-Ayuso Manuel Vidal-Sanz Marta Agudo-Barriuso Grupo de Investigación Oftalmología Experimental Departamento de OftalmologíaOptometríaOtorrinolaringología y Anatomía PatológicaFacultad de MedicinaUniversidad de MurciaInstituto Murciano de Investigación Biosanitaria(IMIB)Campus de Ciencias de la Salud30120 MurciaSpain Grupo de Investigación Trasplante Hematopoyético y Terapia celular Departamento de Bioquímica e Inmunología.Facultad de MedicinaUniversidad de MurciaInstituto Murciano de Investigación Biosanitaria(IMIB)Campus de Ciencias de la Salud30120 MurciaSpain

Advanced mesenchymal stromal cell-based therapies for neurodegenerative diseases are widely investigated in preclinical models.Mesenchymal stromal cells are well positioned as therapeutics because they address the underlying mechanisms of neurodegeneration,namely trophic factor deprivation and neuroinflammation.Most studies have focused on the beneficial effects of mesenchymal stromal cell transplantation on neuronal survival or functional improvement.However,little attention has been paid to the interaction between mesenchymal stromal cells and the host immune system due to the immunomodulatory properties of mesenchymal stromal cells and the long-held belief of the immunoprivileged status of the central nervous system.Here,we review the crosstalk between mesenchymal stromal cells and the immune system in general and in the context of the central nervous system,focusing on recent work in the retina and the importance of the type of transplantation.

关键词： adaptive immunity cell therapy central nervous system immune system innate immunity mesenchymal stromal cells neuroregeneration preclinical studies retina transplantation

Environmental drivers of long-term variations in the abundance of the red hocicudo mouse (Oxymycterus rufus) in Pampas agroecosystems

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Integrative Zoology 2024年第1期19卷 37-51页

作者： Laura Mariel CALFAYAN Regino CAVIA Jimena FRASCHINA Juan Santiago GUIDOBONO Irene Laura GOROSITO María BUSCH Laboratorio de Ecología de Poblaciones Departamento de EcologíaGenética y EvoluciónFacultad de Ciencias Exactas y NaturalesUniversidad de Buenos Aires and Instituto de EcologíaGenética y Evolución de Buenos Aires(IEGEBA)Buenos AiresArgentina

During the 20th century,there has been an ongoing agricultural expansion and global warming,two of the main determinants influencing biodiversity changes in Argentina.The red hocicudo mouse(Oxymycterus rufus)inhabits subtropical grasslands and riparian habitats and has increased its abundance in recent years in central Argentina agroecosystems.This paper describes the long-term temporal changes in O.rufus abundance in Exaltación de la Cruz department,Buenos Aires province,Argentina,in relation to weatherfluctuations and landscape features,as well as analyzes the spatio-temporal structure of captures of animals.We used generalized liner models,semi-variograms,the Mantel test,and autocorrelation functions for the analysis of rodent data obtained from trappings conducted between 1984 and 2014.O.rufus showed an increase in abundance across the years of study,with its distribution depending on landscape features,such as habitat types and the distance tofloodplains.Capture rates showed a spatio-temporal aggregation,suggesting expansion from previously occupied sites.O.rufus was more abundant at lower minimum temperatures in summer,higher precipitation in spring and summer,and lower precip-itations in winter.Weather conditions affected O.rufus abundance,but there was local variation that differed from global patterns of climate change.

关键词： agroecosystems climate change linear habitats Oxymycterus rufus rodent

5-Bromo-2'-deoxyuridine labeling:historical perspectives,factors infiuencing the detection,toxicity,and its implications in the neurogenesis

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Neural Regeneration Research 2024年第2期19卷 302-308页

作者： Joaquín Martí-Clúa Unidad de Citología e Histología.departament de Biologia Cel·lular de Fisiologia i d’Immunologia.Facultad de Biociencias.Institut de Neurociències.Universidad Autónoma de Barcelona08193 BellaterraBarcelonaSpain

The halopyrimidine 5-bromo-2′-deoxyuridine(BrdU)is an exogenous marker of DNA synthesis.Since the introduction of monoclonal antibodies against BrdU,an increasing number of methodologies have been used for the immunodetection of this synthesized bromine-tagged base analogue into replicating DNA.BrdU labeling is widely used for identifying neuron precursors and following their fate during the embryonic,perinatal,and adult neurogenesis in a variety of vertebrate species including birds,reptiles,and mammals.Due to BrdU toxicity,its incorporation into replicating DNA presents adverse consequences on the generation,survival,and settled patterns of cells.This may lead to false results and misinterpretation in the identification of proliferative neuroblasts.In this review,I will indicate the detrimental effects of this nucleoside during the development of the central nervous system,as well as the reliability of BrdU labeling to detect proliferating neuroblasts.Moreover,it will show factors influencing BrdU immunodetection and the contribution of this nucleoside to the study of prenatal,perinatal,and adult neurogenesis.Human adult neurogenesis will also be discussed.It is my hope that this review serves as a reference for those researchers who focused on detecting cells that are in the synthetic phase of the cell cycle.

关键词： 5-bromo-2′-deoxyuridine adult neurogenesis human adult neurogenesis labeling pitfalls prenatal neurogenesis proliferation S-phase suturing S-phase toxicity

Presynaptic endoplasmic reticulum architecture and hereditary spastic paraplegia

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Neural Regeneration Research 2024年第3期19卷 485-486页

作者： Juan JoséPérez-Moreno Instituto de Biomedicina de Sevilla(IBiS) Hospital Universitario Virgen Del Rocío/CSIC/Universidad de Sevillaand Departamento de Biología CelularFacultad de BiologíaUniversidad de SevillaSevilleSpain

Hereditary spastic paraplegia(HSP)is a clinically and genetically heterogeneous neurodegenerative disorder,characterized primarily by progressive spasticity and weakness in the lower limbs.Pat ients can also experience peripheral neuropathy,cognitive impairment,and other neurological symptoms.To date,more than 80 genes have been implicated in HSP,encompassing various cellular components,although mutations in genes encoding endoplasmic reticulum(ER)-shaping proteins are the most prevalent(Parodi et al.,2017).ER-shaping proteins are generally known for regulating the tubulation and curvation of the ER,but most of them show additional functions,including fusion of ER tubules,microtubule-severing,ER autophagy,lipid droplet synthesis,contact sites with other organelles(Öztürk et al.,2020).This highlights the complexity of studying the role of these proteins and the link between ER function and HSP.

关键词： reticulum endoplasmic

The relationship between morphology and flight in Drosophila:a study of two pairs of sibling species from a natural population

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Insect Science 2024年第3期31卷 885-900页

作者： Nicolás Flaibani Victoría Estefania Ortiz Juan JoséFanara Valeria Paula Carreira Laboratorio de Evolucion Departamento de EcologiaGenética y Evolucion(DEGE)Facultad de Ciencias Exactas y Naturales(FCEN)Universidad de Buenos Aires(UBA)Instituto de GenéticaEcologia y Evolucion de Buenos Aires(IEGEBA)Consejo Nacional de Investigaciones Cientificasy Tecnicas(CONICET)-UBABuenos AiresArgentina

Insect flight is a complex trait involved in different behaviors,from the search for sexual partners,food,or breeding sites.Many studies have postulated the adaptive advantages of certain morphological traits in relation to increased flight capacity,such as low values of wing loading or high values of wing:thorax ratio and wing-aspect ratio.However,few studies have evaluated the relationship between variables related to flight and morphological traits in Drosophila.This work aimed to study morphological traits in males and females of two pairs of sibling species:Drosophila buzzati Patterson and Wheeler-Drosophila koeferae Fontdevila and Wasserman,and Drosophila melanogaster Meigen-Drosophila simulans Sturtevant,and to analyze its relationship with flight.We detected the highest proportion of flight time in D.koepferae and D.simulans compared to D.buzzati and D.melanogaster,respectively.Our results also revealed sexual dimorphism,with males exhibiting a higher proportion of flight time than females.Surprisingly,we did not find a general pattern to explain the relationship between morphology and the proportion of flight time because associations varied depending upon the analyses(considering all groups together or each sex-species combination separately).Moreover,these associations explained a low percentage of variation,suggesting that other nonmorphological components related to flight,such as physiological variables,should be taken into account.This work allowed us to show the variability and complexity of an aspect of flight,suggesting that the adaptive role of the morphological traits studied might have been overestimated.

关键词： morphological traits time in flight wing loading wing:thorax ratio wingaspect ratio wing second moment of area