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Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload

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World Journal of Hepatology 2019年第2期11卷 186-198页

作者： Wagner Narciso de Campos Juliana Doblas Massaro Eduardo Luiz Rachid Can?ado Cláudia Emília Vieira Wiezel Aguinaldo Luiz Sim?es Andreza Correa Teixeira fernanda fernandes de souza Celso Teixeira Mendes-Junior Ana de Lourdes Candolo Martinelli Eduardo Ant?nio Donadi Division of Clinical Immunology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo department of Gastroenterology Clinical Gastroenterology and Clinical Hepatology of Clinical HospitalUniversity of S?o Paulo School of Medicine department of Genetics Ribeir?o Preto Medical SchoolUniversity of S?o Paulo Division of Gastroenterology Department of MedicineRibeir?o Preto Medical SchoolUniversity of S?o Paulo departamento de Química Laboratório de Pesquisas Forenses e Gen?micasFaculdade de FilosofiaCiências e Letras de Ribeir?o PretoUniversidade de S?o Paulo

BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to *** gene controls the iron uptake from gut,particularly in patients with hereditary hemochromatosis(HH).AIM To identify associations between HFE coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired *** We sequenced exons 2 to 5 and boundary introns of HFE gene,evaluating all polymorphic sites in patients presenting hereditary(hemochromatosis) or acquired iron overload HCV and HCC) and in healthy controls,using Sanger *** also determined the ensemble of extended haplotype in healthy control individuals,including several major histocompatibility complex loci,using sequence specific *** reconstruction was performed using the Arlequin and Phase softwares,and linkage disequilibrium(LD) between histocompatibility loci and HFE gene was performed using the Haploview *** The HFE*003 allele was overrepresented(f = 71%) and HFE*001 allele was underrepresented(f = 14%) in HH patients compared to all groups.A strong linkage disequilibrium was observed among the H63 D-G,IVS2(+4)-C and C282 YG gene variants,particularly in HH;however,the mutation IVS2(+4)T>C was not directly associated with HH *** HFE*001/HFE*002 genotype conferred susceptibility to HCC in HCV patients exhibiting IO(P = 0.02,OR =14.14).Although HFE is telomeric to other histocompatibility genes,the H63 DG/IVS2(+4)-C(P ≤ 0.00001/P ≤ 0.0057) combination was in LD with HLA-B*44 allele group in healthy *** LD was observed between HFE alleles and other major histocompatibility *** A differential HFE association was observed for HH and for diseases associated with acquired IO(HCV,HCC).Since HFE is very distant from other histocompatibility loci,only weak associations were observed with these a

关键词： HFE gene Hepatocellular carcinoma Hepatitis C Hemochromatosis hereditary Alleles Haplotypes

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Physico-chemical characterization of acid base disorders in patients with COVID-19:A cohort study

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World Journal of Nephrology 2024年第2期13卷 16-23页

作者： Sergio Pinto de souza Juliana R Caldas Marcelo Barreto Lopes Marcelo Augusto Duarte Silveira fernanda Oliveira Coelho Igor Oliveira Queiroz Pedro Domingues Cury Rogério da Hora Passos department of Nephrology Hospital São RafaelSalvadorBA 41253190Brazil department of Nephrology D’Or Institute for Research and Education(IDOR)SalvadorBA 41253190Brazil Faculty of Medicine Escola Bahiana de Medicina e Saúde Pública-EBMSPSalvadorBA 40290000Brazil department of Intensive Care D’Or Institute for Research and Education(IDOR)SalvadorBA 41253190Brazil Hospital São Rafael D’Or Institute for Research and Education(IDOR)SalvadorBA 41253190Brazil department of Intensive Care Unit Hospital Israelita Albert EinsteinSao PauloSP 05652900Brazil

BACKGROUND Acid-base imbalance has been poorly described in patients with coronavirus disease 2019(COVID-19).Study by the quantitative acid-base approach may be able to account for minor changes in ion distribution that may have been over-looked using traditional acid-base analysis *** a cohort of critically ill COVID-19 patients,we looked for an association between metabolic acidosis surrogates and worse clinical outcomes,such as mortality,renal dialysis,and length of hospital *** To describe the acid-base disorders of critically ill COVID-19 patients using Stewart’s approach,associating its variables with poor *** This study pertained to a retrospective cohort comprised of adult patients who experienced an intensive care unit stay exceeding 4 days and who were diagnosed with severe acute respiratory syndrome coronavirus 2 infection through a positive polymerase chain reaction analysis of a nasal swab and typical pulmonary involvement observed in chest computed tomography *** and clinical data were obtained from electronic *** variables were compared using Fisher’s exact *** data were presented as median and interquartile *** Mann-Whitney U test was used for *** In total,211 patients were *** mortality rate was 13.7%.Overall,149 patients(70.6%)presented with alkalosis,28 patients(13.3%)had acidosis,and the remaining 34 patients(16.2%)had a normal arterial pondus *** those presenting with acidosis,most had a low apparent strong ion difference(SID)(20 patients,9.5%).Within the group with alkalosis,128 patients(61.0%)had respiratory *** non-survivors were older,had more comorbidities,and had higher Charlson’s and simplified acute physiology score *** did not find severe acid-base imbalance in this *** analyzed Stewart’s variables(effective SID,apparent SID,and strong ion gap and the effect of albumin,lactate,phosphorus,and chloride)were not d

关键词： COVID-19 Physicochemical approach Acid-base status Critically ill patients Acute respiratory syndrome

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Concerns about the application of resistance exercise with blood-flow restriction and thrombosis risk in hemodialysis patients

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Journal of Sport and Health Science 2024年第4期13卷 548-558,F0003页

作者： Hugo de Luca Correa Lysleine Alves deus Dahan da Cunha Nascimento Nicholas Rolnick Rodrigo Vanerson Passos Neves Andrea Lucena Reis Thais Branquinho de Araujo Carmen Tzanno-Martins fernanda Silveira Tavares Luiz Sinesio Silva Neto Claudio Avelino Rodrigues Santos Paolo Lucas Rodrigues-Silva Fernando Honorato souza Vitoria Marra da Motta Vilalva Mestrinho Rafael Lavarini dos Santos Rosangela Vieira Andrade Jonato Prestes Thiago dos Santos Rosa Post-graduate Program of Physical Education Catholic University of BrasıliaBrasılia 71966-700Brazil The Human Performance Mechanic Lehman CollegeNew YorkNY 10011USA Clinical Group Home Dialysis Center and RenalClass Sao Paulo 01239-040Brazil department of Medicine Catholic University of BrasıliaBrasılia 71966-700Brazil Faculty of Medicine Federal University of TocantinsTocantins 77001-090Brazil Embrapa Genetic Resources and Biotechnology Brasılia 70770-917Brazil Graduate Program of Genomic Sciences and Biotechnology Brasılia 71966-700Brazil

Background:Hemodialysis(HD) per se is a risk factor for *** the growing body of evidence on blood-flow restriction(BFR) exercise in HD patients,identification of possible risk factors related to the prothrombotic agent D-dimer is required for the safety and feasibility of this training *** aim of the present study was to identify risk factors associated with higher D-dimer levels and to determine the acute effect of resistance exercise(RE) with BFR on this ***:Two hundred and six HD patients volunteered for this study(all with a glomerular filtration rate of ded concentric and eccentric lifting phases(each lasting 2 s) and were supervised by a strength and conditioning ***:Several variables were associated with elevated levels of D-dimer,including higher blood glucose,citrate use,recent cardiovascular events,recent intercurrents,higher inflammatory status,catheter as vascular access,older patients(>70 years old),and HD ***,RE+BFR significantly increases D-dimer after 4 *** with borderline baseline D-dimer levels(400-490 ng/mL) displayed increased risk of elevating D-dimer over the normal range(≥500 ng/mL).Conclusion:These results identified factors associated with a heightened prothrombotic state and may assist in the screening process for HD patients who wish to undergo RE+BFR.D-dimer and/or other fibrinolysis factors should be assessed at baseline and throughout the protocol as a precautionary measure to maximize safety during RE+BFR.

关键词： Blood-flow restriction Chronic kidney disease Coagulation Hemodialysis Vascular occlusion exercises

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Is there a window of opportunity for the therapeutic use of vitamin D in multiple sclerosis?

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Neural Regeneration Research 2022年第9期17卷 1945-1954页

作者： Sofia fernanda Gonçalves Zorzella-Pezavento Luiza Ayumi Nishiyama Mimura Marina Bonifácio denadai William Danilo fernandes de souza Thais fernanda de Campos Fraga-Silva Alexandrina Sartori department of Chemical and Biological Sciences Institute of BiosciencesSão Paulo State University(UNESP)BotucatuSão PauloBrazil

Multiple sclerosis is an autoimmune treatable but not curable *** are a multiplicity of medications for multiple sclerosis therapy,including a class entitled disease-modifying drugs that are mainly indicated to reduce the number and severity of disease *** all patients respond well to these therapies,and minor to severe adverse effects have been *** D,called sunshine vitamin,is being studied as a possible light at the end of the *** this review,we recapitulated the similar immunopathogenesis of multiple sclerosis and experimental autoimmune encephalomyelitis,the immunomodulatory and neuroprotective potential of vitamin D and the state-of-art concerning its supplementation to multiple sclerosis ***,based on our and other groups’experimental findings,we analyzed the need to consider the relevance of the route and the different time-point administration aspects for a more rational indication of this vitamin to multiple sclerosis patients.

关键词： central nervous system cytokines experimental autoimmune encephalomyelitis immunomodulation immunopathogenesis inflammation multiple sclerosis neuroprotection regulatory T cells vitamin D

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Response to Commentary by Dr. Matthew J. Clarkson on

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Journal of Sport and Health Science 2024年第5期13卷 670-671页

作者： Hugo de Luca Corrêa Lysleine Alves deus Dahan da Cunha Nascimento Nicholas Rolnick Rodrigo Vanerson Passos Neves Andrea Lucena Reis Thais Branquinho de Araújo Carmen Tzanno-Martins fernanda Silveira Tavares Luiz Sinésio Silva Neto Cláudio Avelino Rodrigues Santos Paolo Lucas Rodrigues-Silva Fernando Honorato souza Vitória Marra da Motta Vilalva Mestrinho Rafael Lavarini dos Santos Rosangela Vieira Andrade Jonato Prestes Thiago dos Santos Rosa Post-graduate Program of Physical Education Catholic University of BrasıliaBrasılia 71966-700Brazil The Human Performance Mechanic Lehman CollegeNew YorkNY 10011USA Clinical Group Home Dialysis Center and RenalClass Sao Paulo 01239-040Brazil department of Medicine Catholic University of BrasıliaBrasılia 71966-700Brazil Faculty of Medicine Federal University of TocantinsTocantins 77001-090Brazil Embrapa Genetic Resources and Biotechnology Brasılia 70770-917Brazil g Graduate Program of Genomic Sciences and Biotechnology Brasılia 71966-700Brazil

dear editor:We sincerely thank Matthew *** for his insightful commentary1 on our recent publication in the Journal of Sport and Health Science.2 Clarkson's pioneering work in the development and application of blood flow restriction (BFR) exercise protocols has undeniably laid the groundwork for subsequent investigations in this field,including our own.(3-6)His commentary not only highlights the relevance and timeliness of our study but also offers valuable perspectives on refining safety considerations for intradialytic BFR exercise among hemodialysis patients.

关键词： patients application flow

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Co-inoculation of selected nodule endophytic rhizobacterial strains with Rhizobium tropici promotes plant growth and controls damping off in common bean

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Pedosphere 2020年第1期30卷 98-108页

作者： Linnajara de VASCONCELOS MARTINS FERREIRA fernanda de CARVALHO Júlia FONSECA COLOMBO ANDRAde Damiany PáDUA OLIVEIRA Flávio Henrique VASCONCELOS de MEdeIROS Fatima Maria de souza MOREIRA Sector of Biology Microbiology and Biological ProcessesDepartment of Soil ScienceUniversidade Federal de LavrasLavras C.P.3037-37200-000(Brazil) Instituto Federal do Pará/IFPA Campus MarabáRuralMarabáC.P.041-68508-979(Brazil) Universidade Federal de Lavras Department of PhytopathologyLavras C.P.3037-37200-000(Brazil)

Production of common bean(Phaseolus vulgaris)is limited by the occurrence of damping off(rhizoctoniosis),which is caused by the fungus Rhizoctonia ***,the co-inoculation of plant growth-promoting rhizobacteria(PGPR)involved in biological control along with diatomic nitrogen(N2)-fixing rhizobia can enhance N nutrition and increase *** this context,finding microorganisms with synergistic effects that perform these two roles is of fundamental importance to ensure adequate yield *** aim of this study was to evaluate the effects of co-inoculation of nodule endophytic strains of the genera Bacillus,Paenibacillus,Burkholderia,and Pseudomonas with Rhizobium tropici CIAT 899,an N2-fixing rhizobial strain,on the biocontrol of damping off and growth promotion in common bean *** experiments were conducted under axenic conditions using the common bean cultivar Pé*** first experiment evaluated the potential of the 14 rhizobacterial strains,which were inoculated alone or in combination with CIAT 899,for the control of *** second experiment evaluated the ability of these 14 rhizobacterial strains to promote plant growth with three manners of N supply:co-inoculation with CIAT 899 at low mineral N supply(5.25 mg N mL^-1),low mineral N supply(5.25 mg N mL^-1),and high mineral N supply(52.5 mg N mL^-1).The use of rhizobacteria combined with rhizobia contributed in a synergistic manner to the promotion of growth and the control of damping off in the common ***-inoculation of the strains UFLA 02-281/03-18(Pseudomonas sp.),UFLA 02-286(Bacillus sp.),and UFLA 04-227(Burkholderia fungorum)together with CIAT 899 effectively controlled damping *** the common bean,mineral N supply can be replaced by the co-inoculation of CIAT 899 with plant growth-promoting strains UFLA 02-281/02-286/02-290/*** endophytes UFLA02-281/02-286 are promising for co-inoculation with CIAT 899 in the common bean,promoting synergy with rhizobial i

关键词： Bacillus sp. biological control Burkholderia fungorum CIAT 899 Phaseolus vulgaris plant growth-promoting rhizobacteria Pseudomonas sp. Rhizoctonia solani

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Genotype-environment interaction in Cordia trichotoma(Vell.)Arrá*** *** in two different soil conditions

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Journal of Forestry Research 2022年第1期33卷 309-319页

作者： Wanderley dos Santos Bruno Marchetti de souza Daniele fernanda Zulian Gilberto Terra Ribeiro Alves João Bosco Vasconcellos Gomes Mário Luiz Teixeira de Moraes Valderês Aparecida de Sousa Ananda Virginia de Aguiar Faculdade de Engenharia de Ilha Solteira Universidade Estadual Paulista“Júlio Mesquita Filho”Ilha Solteira 15385-000Brazil Sucupira Agroflorestas Fazenda SucupiraValença 45400-000Brazil EMBRAPA Florestas Empresa Brasileira de Pesquisa AgropecuáriaColombo 83411-000Brazil

Investment in silvicultural techniques is noticeably lacking,especially in breeding programs for non-conventional wood *** genotype×environment interaction(G×E)is essential to the development of breeding ***,this study aimed to estimate genetic diversity of and the effects of G×E interaction on two progeny tests of Cordia trichotoma,including the estimation of genetic gain and genetic diversity after *** the experiment,30 progenies of *** were tested at two sites with differing soil *** at breast height(1.30 m above soil surface,dbh-cm),total height,diameter at 30 cm from the soil,first branch height,and survival were all monitored for four *** deviance,best linear unbiased estimator,and harmonic mean of relative performance of genetic values(MHPRVG)were all calculated to predict breeding values,estimate genetic parameters,and analyze *** quantified traits varied significantly among progenies by soil type,with greatest variation recorded for genetic *** of the progenies led to predictions of genetic gain,ranging from 7.73 to 15.45%,for dbh at four years of *** calculated decrease in genetic diversity after selection showed that this parameter should be monitored in subsequent breeding cycles.G×E was low for all *** best-performing progenies proved most stable and best adapted to the different environmental conditions tested.

关键词： Effective population number Native species Productivity Stability and adaptability Tree improvement

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Diversity of the endophytic filamentous fungal leaf community at different development stages of eucalyptus

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Journal of Forestry Research 2019年第3期30卷 1093-1103页

作者： Paulo Sergio Balbino Miguel Fabio Balbino Miguel Bruno Coutinho Moreira Marcelo Nagem Valerio de Oliveira Julio Cesar delvaux fernanda de souza Freitas Arnaldo Chaer Borges Maurcio Dutra Costa departamento de Medicina e Enfermagem Universidade Federal de VicosaVicosaMinas Gerais 36570-000Brazil departamento de Quimica Universidade Federal de Juiz de ForaJuiz de ForaMinas Gerais 36036-300Brazil Colegiado de Engenharia Agronomica Universidade Federal do Vale do Sao FranciscoPetrolinaPernambuco 56300-990 Brazil departamento de Ciencias Basicas da Vida Campus Governador Valadares Universidade Federal de Juiz de Fora Governador ValadaresMinas Gerais 35012-140Brazil Coordenacao Geral de Ensino Pesquisa e Extensao Instituto Federal do Triangulo MineiroItuiutabaMinas Gerais 38035-200Brazil departamento de Microbiologia Instituto de Biotecnologia Aplicada aAgropecuariaUniversidade Federal de Vicosa VicosaMinas Gerais 36570-000Brazil

Fungal endophytic species inhabiting the leaves of eucalypts are capable of utilising leaf sugars and can influence both plant growth and health. Endophytic fungal symbionts can use simple soluble sugars in leaves as their main carbon source. This study set out to determine the diversity and distribution of the endophytic filamentous fungal leaf community in the hybrid Eucalyptus urograndis due to its economic importance. The fungal leaf community was characterised using denaturing gradient electrophoresis (DGGE) and correlated with levels of leaf nutrients and sugars throughout plant development. Sequencing of DGGE bands revealed the presence of Basidiomycota and Ascomycota phyla. Fourteen species and three genera of filamentous fungi were identified, and the population structure was affected by the plant developmental stage. Levels of K, Cu, N and Mn influenced communities from the clonal garden, whereas leaves in the field had higher glucose, fructose and sucrose. Many fungi were found to be specific to a certain development stages: Diplomitoporus crustulinus, Podosphaera tridactyla and Aspergillus restrictus to the clonal garden stage;Chaetomella acutiseta and Ascotricha chartarum to the shading stage;Erratomyces patelii and Saxomyces sp. to the shading output stage;Lepidostroma sp. and Saxomyces sp. to the dispatch stage;and Mycosphaerella populicola to the field stage. Teratosphaeria toledana and Teratosphaeria acidotherma were found at more than one developmental stage. Cladosporium sp. and Rhodosporidium fluviale colonized and persisted in plants at the dispatch and field stages. This is the first report of P. tridactyla, A. restrictus, E. patelii, Saxomyces and Lepidostroma sp. as endophytes in eucalipt.

关键词： Diversity 18S rRNA denaturing gradient electrophoresis(DGGE) Sequencing

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In vitro induced pluripotency from urine-derived cells in porcine

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World Journal of Stem Cells 2022年第3期14卷 231-244页

作者： Kaiana Recchia Lucas Simões Machado Ramon Cesar Botigelli Naira Caroline Godoy Pieri Gabriela Barbosa Raquel Vasconcelos Guimarães de Castro Mariana Groke Marques Laís Vicari de Figueiredo Pessôa Paulo Fantinato Neto Flávio Vieira Meirelles Aline fernanda de souza Simone Maria Massami Kitamura Martins Fabiana fernandes Bressan department of Surgery Faculty of Veterinary Medicine and Animal SciencesUniversity of São PauloPirassununga 13635-000São PauloBrazil department of Pharmacology and Biotechnology Institute of BioscienceSão Paulo State UniversityBotucatu 18618-689São PauloBrazil department of Veterinary Medicine Faculty of Animal Sciences and Food EngineeringUniversity of São PauloPirassununga 13635-000São PauloBrazil Embrapa Suínos e Aves Empresa Brasileira de Pesquisa AgropecuáriaConcordia 89715-899Santa CatarinaBrazil department of Animal Sciences Faculty of Animal Sciences and Food EngineeringUniversity of São PauloPirassununga 13635-000São PauloBrazil

BACKGROUND The generation of induced pluripotent stem cells(iPSC)has been a game-changer in translational and regenerative medicine;however,their large-scale applicability is still hampered by the scarcity of accessible,safe,and reproducible *** porcine model is a large biomedical model that enables translational applications,including gene editing,long term in vivo and offspring analysis;therefore,suitable for both medicine and animal *** To reprogramme in vitro into pluripotency,and herein urine-derived cells(UDCs)were isolated from porcine *** The UDCs were reprogrammed in vitro using human or murine octamer-binding transcription factor 4(OCT4),SRY-box2(SOX2),Kruppel-like factor 4(KLF4),and C-MYC,and cultured with basic fibroblast growth factor(bFGF)*** characterize the putative porcine iPSCs three clonal lineages were submitted to immunocytochemistry for alkaline phosphatase(AP),OCT4,SOX2,NANOG,TRA181 and SSEA 1 *** transcripts related to the pluripotency(OCT4,SOX2 and NANOG)were analyzed via reverse transcription quantitative realtime polymerase chain reaction in different time points during the culture,and all three lineages formed embryoid bodies(EBs)when cultured in suspension without bFGF *** The UDCs were isolated from swine urine samples and when at passage 2 submitted to in vitro *** of putative iPSCs were obtained only from UDCs transduced with the murine factors(mOSKM),but not from human factors(hOSKM).Three clonal lineages were isolated and further cultured for at least 28 passages,all the lineages were positive for AP detection,the OCT4,SOX2,NANOG markers,albeit the immunocytochemical analysis also revealed heterogeneous phenotypic profiles among lineages and passages for NANOG and SSEA1,similar results were observed in the abundance of the endogenous transcripts related to pluripotent *** the clonal lineages when cultured in suspension without

关键词： Induced pluripotent stem cells Noninvasive Pluripotency Reprogramming Urine Porcine

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Effects of sulforaphane on brain mitochondria: mechanistic view and future directions

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2020年第4期21卷 263-279页

作者： fernanda Rafaela JARDIM Fhelipe Jolner souza de ALMEIDA Matheus Dargesso LUCKACHAKI Marcos Roberto de OLIVEIRA Forensic Institute Forensic Toxicology DivisionPostmortem Toxicology SectorCEP 90160-093Porto AlegreRSBrazil Postgraduate Program in Health Sciences(PPGCS) Federal University of Mato Grosso(UFMT)CEP 78060-900CuiabaMTBrazil department of Chemistry Federal University of Mato Grosso(UFMT)CEP 78060-900CuiabaMTBrazil Postgraduate Program in Chemistry(PPGQ) Federal University of Mato Grosso(UFMT)CEP 78060-900CuiabaMTBrazil department of Biochemistry Prof.“Tuiskon Dick” Federal University of Rio Grande do Sul(UFRGS)CEP 90035-000Porto AlegreRSBrazil

The organosulfur compound sulforaphane(SFN;C6H11NOS2) is a potent cytoprotective agent promoting antioxidant, anti-inflammatory, antiglycative, and antimicrobial effects in in vitro and in vivo experimental models. Mitochondria are the major site of adenosine triphosphate(ATP) production due to the work of the oxidative phosphorylation(OXPHOS) system. They are also the main site of reactive oxygen species(ROS) production in nucleated human cells. Mitochondrial impairment is central in several human diseases, including neurodegeneration and metabolic disorders. In this paper, we describe and discuss the effects and mechanisms of action by which SFN modulates mitochondrial function and dynamics in mammalian cells. Mitochondria-related pro-apoptotic effects promoted by SFN in tumor cells are also discussed. SFN may be considered a cytoprotective agent, at least in part, because of the effects this organosulfur agent induces in mitochondria. Nonetheless, there are certain points that should be addressed in further experiments, indicated here as future directions, which may help researchers in this field of research.

关键词： Sulforaphane Brain Mitochondria Antioxidant Nuclear factor erythroid 2-related factor 2(Nrf2)

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