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[PMID]:29465556
[Au] Autor:Ni Y; Jiang C
[Ad] Endereço:Department of Spine Surgery.
[Ti] Título:Identification of potential target genes for ankylosing spondylitis treatment.
[So] Source:Medicine (Baltimore);97(8):e9760, 2018 Feb.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This study aimed to identify the potential target genes for the treatment of ankylosing spondylitis (AS).Dataset GSE25101 was downloaded from Gene Expression Omnibus, including 16 AS and 16 normal control blood samples. Differentially expressed genes (DEGs) were identified using unmatched t-test in limma package with adjusted P < .05. Gene ontology-biological process (GO-BP) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were conducted using multifaceted analysis tool for human transcriptome. Protein-protein interaction (PPI) network was constructed using STRING and Cytoscape, and module analysis was performed using MCODE plug-in. Webgestal was utilized to predict transcriptional factor (TF)-microRNA-target network and Comparative Toxicogenomics Database (CTD) was applied to predict chemical-target network.A total of 334 DEGs were identified, including 136 upregulated genes and 198 downregulated genes. According to STRING, a PPI network was constructed and 1 significant clustered module was screen out with score = 6.33. MAPK7 (degree = 11) and NDUFS4 (degree = 10) were 2 important nodes in PPI network, and both of them were significantly enriched in cAMP mediated signaling pathway (P = 2.02E-02). MAPK7 could be regulated by NFY. Both MAPK7 and NDUFS4 were 2 potential targets for Indomethacin.MAPK7 and NDUFS4 played important roles in the pathogenesis of AS via cAMP mediated signaling pathway. Both of them could be targeted by Indomethacin.
[Mh] Termos MeSH primário: Proteína Quinase 7 Ativada por Mitógeno/sangue
NADH Desidrogenase/sangue
Mapeamento de Interação de Proteínas/métodos
Mapas de Interação de Proteínas/genética
Espondilite Anquilosante/genética
[Mh] Termos MeSH secundário: Anti-Inflamatórios não Esteroides/farmacologia
Estudos de Casos e Controles
Análise por Conglomerados
Biologia Computacional
Redes Reguladoras de Genes
Seres Humanos
Indometacina/farmacologia
Transdução de Sinais/genética
Espondilite Anquilosante/sangue
Espondilite Anquilosante/tratamento farmacológico
Transcriptoma
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents, Non-Steroidal); EC 1.6.5.3 (NDUFS4 protein, human); EC 1.6.99.3 (NADH Dehydrogenase); EC 2.7.11.24 (MAPK7 protein, human); EC 2.7.11.24 (Mitogen-Activated Protein Kinase 7); XXE1CET956 (Indomethacin)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180222
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009760


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[PMID]:28919506
[Au] Autor:Gonçalves DV; Martínez-Freiría F; Crochet PA; Geniez P; Carranza S; Brito JC
[Ad] Endereço:CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Campus Agrário de Vairão, 4485-661 Vairão, Portugal; Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Rua Campo Alegre, 4169-007 Porto, Portugal; Institute of Evolutionary Biolog
[Ti] Título:The role of climatic cycles and trans-Saharan migration corridors in species diversification: Biogeography of Psammophis schokari group in North Africa.
[So] Source:Mol Phylogenet Evol;118:64-74, 2018 Jan.
[Is] ISSN:1095-9513
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Highlands, hydrographic systems and coastal areas have been hypothesised to form corridors across the hyperarid Sahara desert in North Africa, allowing dispersal and gene flow for non-xeric species. Here we aim to provide a genetic test for the trans-Saharan corridor model, and predict the location and stability of ecological-corridors, by combining phylogeography and palaeoclimatic modelling. The model was the Psammophis schokari (Schokari sand racer) group, fast-moving and widely distributed generalist colubrids occurring mostly in arid and semiarid scrublands. We combined dated phylogenies of mitochondrial and nuclear markers with palaeoclimatic modelling. For the phylogeographic analysis, we used 75 samples of P. schokari and P. aegyptius, and Bayesian and Maximum-Likelihood methods. For the ecological models, we used Maxent over the distribution of P. schokari and West African lineages. Models were projected to past conditions (mid Holocene, Last Glacial Maximum and Last Inter-Glacial) to infer climatic stable areas. Climatic stability was predicted to be mostly restricted to coastal areas and not spatially continuous. A putative temporary trans-Saharan corridor was identified in Eastern Sahara, with a more stable one along the Atlantic coast. Six parapatric lineages were identified within P. schokari, four occurring in North Africa. These likely diverged during the Pliocene. The Tamanraset River might have been a vicariant agent. African lineages may have experienced further subsequent diversification during the late Pleistocene. The main P. schokari refugia were probably located along the northern margins of the Sahara, allowing its North-to-South colonization. Trans-Saharan corridors seem to have played a role in P. schokari biogeography, allowing colonization of central Saharan mountains and Sahel. Some might have worked as refugia, and even the most stable corridors may have sections working as filters, depending on each climatic phase. We expect the use of trans-Saharan corridors to decrease for more mesic species or with less dispersal capabilities.
[Mh] Termos MeSH primário: Serpentes/classificação
[Mh] Termos MeSH secundário: África do Norte
Migração Animal
Animais
Teorema de Bayes
Clima
Citocromos b/química
Citocromos b/genética
DNA Mitocondrial/química
DNA Mitocondrial/isolamento & purificação
DNA Mitocondrial/metabolismo
Variação Genética
Funções Verossimilhança
NADH Desidrogenase/química
NADH Desidrogenase/genética
Filogenia
Filogeografia
Análise de Sequência de DNA
Serpentes/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 9035-37-4 (Cytochromes b); EC 1.6.99.3 (NADH Dehydrogenase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170919
[St] Status:MEDLINE


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[PMID]:27770741
[Au] Autor:Frye MA; Ryu E; Nassan M; Jenkins GD; Andreazza AC; Evans JM; McElroy SL; Oglesbee D; Highsmith WE; Biernacka JM
[Ad] Endereço:Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA. Electronic address: mfrye@mayo.edu.
[Ti] Título:Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder.
[So] Source:J Psychiatr Res;84:221-226, 2017 01.
[Is] ISSN:1879-1379
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Converging genetic, postmortem gene-expression, cellular, and neuroimaging data implicate mitochondrial dysfunction in bipolar disorder. This study was conducted to investigate whether mitochondrial DNA (mtDNA) haplogroups and single nucleotide variants (SNVs) are associated with sub-phenotypes of bipolar disorder. MtDNA from 224 patients with Bipolar I disorder (BPI) was sequenced, and association of sequence variations with 3 sub-phenotypes (psychosis, rapid cycling, and adolescent illness onset) was evaluated. Gene-level tests were performed to evaluate overall burden of minor alleles for each phenotype. The haplogroup U was associated with a higher risk of psychosis. Secondary analyses of SNVs provided nominal evidence for association of psychosis with variants in the tRNA, ND4 and ND5 genes. The association of psychosis with ND4 (gene that encodes NADH dehydrogenase 4) was further supported by gene-level analysis. Preliminary analysis of mtDNA sequence data suggests a higher risk of psychosis with the U haplogroup and variation in the ND4 gene implicated in electron transport chain energy regulation. Further investigation of the functional consequences of this mtDNA variation is encouraged.
[Mh] Termos MeSH primário: Transtorno Bipolar/genética
Transtorno Bipolar/psicologia
DNA Mitocondrial
Predisposição Genética para Doença
Haplótipos
Transtornos Psicóticos/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Transtorno Bipolar/complicações
Estudos Transversais
Complexo I de Transporte de Elétrons/genética
Grupo com Ancestrais do Continente Europeu/genética
Feminino
Estudos de Associação Genética
Seres Humanos
Masculino
Meia-Idade
Proteínas Mitocondriais/genética
NADH Desidrogenase/genética
Fenótipo
Polimorfismo de Nucleotídeo Único
Transtornos Psicóticos/complicações
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 0 (Mitochondrial Proteins); EC 1.6.5.3 (Electron Transport Complex I); EC 1.6.5.3 (NADH dehydrogenase subunit 4); EC 1.6.99.3 (NADH Dehydrogenase); EC 1.6.99.3 (ND5 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:180111
[Lr] Data última revisão:
180111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161023
[St] Status:MEDLINE


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[PMID]:28837730
[Au] Autor:Wang B; Liu Y; Chen S; Wu Y; Lin S; Duan Y; Zheng K; Zhang L; Gu X; Hong W; Shao H; Zeng X; Sun B; Duan S
[Ad] Endereço:Laboratory of Medical Genetics, Shenzhen Research Institute of Population and Family Planning, Shenzhen, China.
[Ti] Título:A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.
[So] Source:Invest Ophthalmol Vis Sci;58(10):4182-4192, 2017 Aug 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Pathologic myopia described as myopia accompanied by severe deformation of the eye besides excessive elongation of eye, is usually a genetic heterogeneous disorder characterized by extreme, familial, early-onset vision loss. However, the exact pathogenesis of pathologic myopia remains unclear. In this study, we screened a Han Chinese family with pathologic myopia to identify the causative mutation and explore the possible pathogenic mechanism based on evaluation of the biological functions of the mutation. Methods: We identified the mutations in a family with pathologic myopia by single nucleotide polymorphism array combined with short tandem repeat microsatellite marker analysis and exome sequencing. Mutations were validated among family members by direct Sanger sequencing. The subcellular localization of the protein variant was investigated by immunofluorescence, and the stability of the mutant protein was determined by immunoblotting. Intracellular levels of adenosine triphosphate and reactive oxygen species and complex I activity were measured by traditional biochemical methods to determine the functional role of the disease-associated mutation. Results: The novel missense mutation: c.798C>G (p.Asp266Glu) in NDUFAF7, cosegregated with the disease and the resulting amino acid substitution affected a highly conserved residue in its protein. The mutation D266E in NDUFAF7 impaired complex I activity, which resulted in decreased ATP levels in cultured cells. Conclusions: We propose that the heterozygous mutation (c.798C>G) in NDUFAF7 may contribute to the pathogenesis of pathologic myopia, possibly by interfering with the phototransduction cascade. Mitochondrial dysfunction during eye development may lead to pathologic myopia.
[Mh] Termos MeSH primário: Mutação de Sentido Incorreto
Miopia Degenerativa/genética
NADH Desidrogenase/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Trifosfato de Adenosina/metabolismo
Idoso
Grupo com Ancestrais do Continente Asiático/genética
Células Cultivadas
China/epidemiologia
Análise Mutacional de DNA
Complexo I de Transporte de Elétrons/metabolismo
Feminino
Técnica Indireta de Fluorescência para Anticorpo
Técnicas de Genotipagem
Seres Humanos
Masculino
Repetições de Microssatélites
Microscopia Confocal
Meia-Idade
Mitocôndrias/enzimologia
Miopia Degenerativa/metabolismo
NADH Desidrogenase/metabolismo
Linhagem
Espécies Reativas de Oxigênio/metabolismo
Epitélio Pigmentado da Retina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Reactive Oxygen Species); 8L70Q75FXE (Adenosine Triphosphate); EC 1.6.5.3 (Electron Transport Complex I); EC 1.6.5.3 (NDUFAF7 protein, human); EC 1.6.99.3 (NADH Dehydrogenase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170825
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-20941


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[PMID]:28768321
[Au] Autor:Khan NA; Govindaraj P; Soumittra N; Sharma S; Srilekha S; Ambika S; Vanniarajan A; Meena AK; Uppin MS; Sundaram C; Bindu PS; Gayathri N; Taly AB; Thangaraj K
[Ad] Endereço:Council of Scientific and Industrial Research, Centre for Cellular and Molecular Biology, Hyderabad, India.
[Ti] Título:Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.
[So] Source:Invest Ophthalmol Vis Sci;58(10):3923-3930, 2017 Aug 01.
[Is] ISSN:1552-5783
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Purpose: Leber's hereditary optic neuropathy (LHON; OMIM 535000) is one of the most common maternally inherited mitochondrial disorders. Three mitochondrial DNA point mutations-m.3460G>A (MT-ND1), m.11778G>A (MT-ND4), and m.14484T>C (MT-ND6)-account for the majority of reported LHON cases. Only approximately 50% of males and approximately 10% of females carrying these mutations develop optic neuropathy and blindness. Additional factors, such as mtDNA/nuclear genetic background and environmental modifiers, are likely to contribute toward the observed incomplete penetrance and gender bias. We aimed to investigate whether mtDNA haplogroup influences LHON clinical expression in Indian patients harboring the m.11778G>A mutation. Methods: Detailed clinical assessment and complete mitochondrial genome sequencing was undertaken in 64 LHON families harboring the m.11778G>A mutation. Mitochondrial haplogroup was assigned based on evolutionarily conserved mtDNA variations. Results: A total of 543 individuals (295 male, 248 female) from 64 unrelated families harboring the m.11778G>A mutation were recruited to the study. The overall disease penetrance was 27.07% (146 of 543) and higher in males (37.9%; 112 of 295) than females (13.7%; 34 of 248). The mtDNA haplogroup analysis revealed that all affected probands belonged to different mtDNA haplogroups. No association between the m.11778G>A mutation and the background mtDNA haplogroup was detected. Conclusions: The first detailed study of Indian LHON patients confirm that the m.11778G>A-related LHON in India coexists with multiple different mtDNA haplogroups, unlike the preferential association of west Eurasian haplogroup J and the reported increased clinical penetrance with the J2 subhaplogroup. However, we observed variable penetrance of LHON in different Indian mtDNA haplogroup backgrounds, indicating their possible influence on clinical expression. These data suggest that a similar heterogeneity, resulting from the mtDNA haplogroup, might also exist in other mitochondrial diseases among Indian populations.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
DNA Mitocondrial/genética
NADH Desidrogenase/genética
Atrofia Óptica Hereditária de Leber/genética
Mutação Puntual
[Mh] Termos MeSH secundário: Adulto
Análise Mutacional de DNA
Família
Feminino
Haplótipos/genética
Seres Humanos
Índia/epidemiologia
Masculino
Mitocôndrias/genética
Atrofia Óptica Hereditária de Leber/epidemiologia
Atrofia Óptica Hereditária de Leber/patologia
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); EC 1.6.5.3 (NADH dehydrogenase subunit 4); EC 1.6.99.3 (NADH Dehydrogenase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170811
[Lr] Data última revisão:
170811
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170803
[St] Status:MEDLINE
[do] DOI:10.1167/iovs.16-20695


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[PMID]:28647203
[Au] Autor:Guy J; Feuer WJ; Davis JL; Porciatti V; Gonzalez PJ; Koilkonda RD; Yuan H; Hauswirth WW; Lam BL
[Ad] Endereço:Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida. Electronic address: JGuy@med.miami.edu.
[Ti] Título:Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results.
[So] Source:Ophthalmology;124(11):1621-1634, 2017 Nov.
[Is] ISSN:1549-4713
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To determine the effects of AAV2(Y444,500,730F)-P1ND4v2 in patients with Leber hereditary optic neuropathy (LHON). DESIGN: Prospective open-label, unilateral single-dose, intravitreal injection of AAV2(Y444,500,730F)-P1ND4v2 per participant. PARTICIPANTS: Fourteen patients with visual loss and mutated G11778A mitochondrial DNA. METHODS: Intravitreal injection with the gene therapy vector AAV2(Y444,500,730F)-P1ND4v2 into 1 eye. Six participants with chronic bilateral visual loss lasting more than 12 months (group 1), 6 participants with bilateral visual loss lasting less than 12 months (group 2), and 2 participants with unilateral visual loss (group 3) were treated. Nine patients had at least 12 months of follow-up. Clinical testing included visual acuity, visual fields, optical coherence tomography, pattern electroretinography, and neuro-ophthalmic examinations. Generalized estimating equation methods were used for longitudinal analyses. MAIN OUTCOME MEASURE: Loss of visual acuity. RESULTS: For groups 1 and 2, month 12 average acuity improvements with treatment relative to baseline were 0.24 logarithm of the minimum angle of resolution (logMAR). Fellow eyes had a 0.09-logMAR improvement. A post hoc comparison found that at month 12, the difference between study eye minus fellow eye improvement in group 2 patients of 0.53 logMAR was greater than that observed in our prior acute natural history patients of 0.21 logMAR (P = 0.053). At month 18, the difference between study eye minus fellow eye improvement in our acute group 2 gene therapy patients of 0.96 was more than that observed in our prior acute natural history patients (0.17 logMAR; P < 0.001). Two patients demonstrated asymptomatic uveitis that resolved without treatment. Optical coherence tomography of treated eyes showed an average temporal retinal nerve fiber layer thickness of 54 µm before injection and 55 µm at month 12. For fellow eyes before injection, it was 56 µm, decreasing to 50 µm at month 12 (P = 0.013). Generalized estimating equations suggested that PERG amplitudes worsened more in treated eyes than in fellow eyes by approximately 0.05 µV (P = 0.009 exchangeable). No difference between eyes in outcomes of other visual function measures was evident. CONCLUSIONS: Allotopic gene therapy for LHON at low and medium doses seems to be safe and does not damage the temporal retinal nerve fiber layer, opening the door next for testing of the high dose.
[Mh] Termos MeSH primário: DNA Mitocondrial/genética
Dependovirus/genética
Terapia Genética
NADH Desidrogenase/genética
Atrofia Óptica Hereditária de Leber/terapia
Acuidade Visual/fisiologia
Campos Visuais/fisiologia
[Mh] Termos MeSH secundário: Adulto
Anticorpos Neutralizantes/sangue
Dependovirus/imunologia
Eletrorretinografia
Feminino
Seguimentos
Vetores Genéticos
Seres Humanos
Injeções Intravítreas
Masculino
Meia-Idade
Fibras Nervosas
Atrofia Óptica Hereditária de Leber/fisiopatologia
Estudos Prospectivos
Reação em Cadeia da Polimerase em Tempo Real
Células Ganglionares da Retina
Tomografia de Coerência Óptica
Adulto Jovem
[Pt] Tipo de publicação:CLINICAL TRIAL; CLINICAL TRIAL, PHASE I; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Neutralizing); 0 (DNA, Mitochondrial); EC 1.6.5.3 (NADH dehydrogenase subunit 4); EC 1.6.99.3 (NADH Dehydrogenase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170626
[St] Status:MEDLINE


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[PMID]:28526948
[Au] Autor:Rodríguez-García ME; Cotrina-Vinagre FJ; Carnicero-Rodríguez P; Martínez-Azorín F
[Ad] Endereço:Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), Centro de Actividades Ambulatorias (CAA), 6a Planta, Bloque E, Avda. Córdoba s/n, 28041, Madrid, Spain.
[Ti] Título:An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.
[So] Source:Hum Genet;136(7):885-896, 2017 Jul.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:We have developed a new functional complementation approach to clone modifier genes which overexpression is able to suppress the biochemical defects caused by mtDNA mutations (suppressor genes). This strategy consists in transferring human genes into respiratory chain-deficient fibroblasts, followed by a metabolic selection in a highly selective medium. We used a normalized expression cDNA library in an episomal vector (pREP4) to transfect the fibroblasts, and a medium with glutamine and devoid of any carbohydrate source to select metabolically. Growing the patient's fibroblasts in this selective medium, the deficient cells rapidly disappear unless they are rescued by the cDNA of a suppressor gene. The use of an episomal vector allows us to carry out several rounds of transfection/selection (cyclical phenotypic rescue) to enrich the rescue with true clones of suppressor genes. Using fibroblasts from a patient with epileptic encephalopathy with the m.3946G>A (p.E214K) mutation in the MT-ND1 gene, several candidate genes were identified and one of them was characterized functionally. Thus, overexpression of MRPS18C gene (that encode for bS18m protein) suppressed the molecular defects produced by this mtDNA mutation, recovering the complex I activity and reducing the ROS produced by this complex to normal levels. We suggest that modulation of bS18m expression may be an effective therapeutic strategy for the patients with this mutation.
[Mh] Termos MeSH primário: DNA Mitocondrial/genética
Genes Modificadores
Genes Supressores
Proteínas Mitocondriais/genética
Proteínas Ribossômicas/genética
[Mh] Termos MeSH secundário: Células Cultivadas
Fibroblastos/citologia
Fibroblastos/metabolismo
Regulação da Expressão Gênica
Biblioteca Gênica
Seres Humanos
Mutação
NADH Desidrogenase/genética
RNA Longo não Codificante/genética
RNA Longo não Codificante/metabolismo
Espécies Reativas de Oxigênio/metabolismo
Análise de Sequência de DNA
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 0 (MRPS18C protein, human); 0 (Mitochondrial Proteins); 0 (RNA, Long Noncoding); 0 (Reactive Oxygen Species); 0 (Ribosomal Proteins); EC 1.6.99.3 (NADH Dehydrogenase); EC 1.6.99.3 (NADH dehydrogenase subunit 1, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170521
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-017-1812-9


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[PMID]:28500171
[Au] Autor:Michael JV; Wurtzel JGT; Mao GF; Rao AK; Kolpakov MA; Sabri A; Hoffman NE; Rajan S; Tomar D; Madesh M; Nieman MT; Yu J; Edelstein LC; Rowley JW; Weyrich AS; Goldfinger LE
[Ad] Endereço:Department of Anatomy & Cell Biology.
[Ti] Título:Platelet microparticles infiltrating solid tumors transfer miRNAs that suppress tumor growth.
[So] Source:Blood;130(5):567-580, 2017 Aug 03.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Platelet-derived microparticles (PMPs) are associated with enhancement of metastasis and poor cancer outcomes. Circulating PMPs transfer platelet microRNAs (miRNAs) to vascular cells. Solid tumor vasculature is highly permeable, allowing the possibility of PMP-tumor cell interaction. Here, we show that PMPs infiltrate solid tumors in humans and mice and transfer platelet-derived RNA, including miRNAs, to tumor cells in vivo and in vitro, resulting in tumor cell apoptosis. MiR-24 was a major species in this transfer. PMP transfusion inhibited growth of both lung and colon carcinoma ectopic tumors, whereas blockade of miR-24 in tumor cells accelerated tumor growth in vivo, and prevented tumor growth inhibition by PMPs. Conversely, -deleted mice, which had reduced circulating microparticles (MPs), supported accelerated tumor growth which was halted by PMP transfusion. PMP targeting was associated with tumor cell apoptosis in vivo. We identified direct RNA targets of platelet-derived miR-24 in tumor cells, which included mitochondrial , and , a noncoding small nucleolar RNA. These RNAs were suppressed in PMP-treated tumor cells, resulting in mitochondrial dysfunction and growth inhibition, in an miR-24-dependent manner. Thus, platelet-derived miRNAs transfer in vivo to tumor cells in solid tumors via infiltrating MPs, regulate tumor cell gene expression, and modulate tumor progression. These findings provide novel insight into mechanisms of horizontal RNA transfer and add multiple layers to the regulatory roles of miRNAs and PMPs in tumor progression. Plasma MP-mediated transfer of regulatory RNAs and modulation of gene expression may be a common feature with important outcomes in contexts of enhanced vascular permeability.
[Mh] Termos MeSH primário: Plaquetas/metabolismo
Micropartículas Derivadas de Células/metabolismo
Neoplasias do Colo/metabolismo
Neoplasias Pulmonares/metabolismo
MicroRNAs/metabolismo
[Mh] Termos MeSH secundário: Animais
Micropartículas Derivadas de Células/transplante
Neoplasias do Colo/genética
Neoplasias do Colo/patologia
Neoplasias do Colo/terapia
Seres Humanos
Neoplasias Pulmonares/genética
Neoplasias Pulmonares/patologia
Neoplasias Pulmonares/terapia
Camundongos
NADH Desidrogenase/genética
NADH Desidrogenase/metabolismo
Metástase Neoplásica
Proteínas de Neoplasias/genética
Proteínas de Neoplasias/metabolismo
Receptores Ativados por Proteinase
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MicroRNAs); 0 (Mirn24 microRNA, mouse); 0 (NADH dehydrogenase subunit 2, mouse); 0 (Neoplasm Proteins); 0 (Receptors, Proteinase-Activated); 0 (protease-activated receptor 4, mouse); EC 1.6.99.3 (NADH Dehydrogenase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170514
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2016-11-751099


  9 / 3281 MEDLINE  
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[PMID]:28494837
[Au] Autor:Han GX; Xia L; Li SS; Jin QH; Song Y; Shen H; Wang LL; Kong LJ; Li TS; Zhu HY
[Ad] Endereço:Emergency Department, General Hospital of Chinese PLA, Beijing 100853, China.
[Ti] Título:The Association between the C5263T Mutation in the Mitochondrial ND2 Gene and Coronary Heart Disease among Young Chinese Han People.
[So] Source:Biomed Environ Sci;30(4):280-287, 2017 Apr.
[Is] ISSN:0895-3988
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: This study aimed to investigate the genetic background of mitochondrial genes in young patients with Coronary heart disease (CHD) to provide a foundation for the early prevention of young patients with CHD. METHODS: 115 cases of young (â‹œ 45 years) CHD Chinese Han patients (case group), 100 cases of older (> 45 years) Chinese Han CHD patients (experimental group) hospitalized and 100 cases of healthy people through physical examination (control group) at the General Hospital of PLA between January 2014 and December 2015 were selected. General information, clinical assessment, pedigree analysis, and mitochondrial full sequence scanning were performed. The pedigrees of one patient harbouring the C5263T mutation were recruited. Mitochondrial functional analysis including cellular reactive oxygen species (ROS) levels and mitochondrial membrane potential (MMP) were performed on pedigrees with the C5263T mutation (mutation group) and without the mutation (non-mutation group). RESULTS: The differences in biochemical tests (P > 0.05) between the case group and experimental group were not significant. The C5263T single-nucleotide mutation of the mitochondrial ND2 gene was observed in 2 young CHD patients in the case group. The premature CHD of these 2 patients followed a pattern of maternal inheritance. The mutation group (I1, II2) had higher ROS levels (4750.82 ± 1045.55 vs. 3888.58 ± 487.60, P = 0.022) and lower MMP levels (P = 0.045) than the non-mutation group (II1, III1, III2). CONCLUSION: We speculated that the mitochondrial C5263T mutation might be associated with the occurrence CHD in Chinese Han young people.
[Mh] Termos MeSH primário: Doença das Coronárias/epidemiologia
Proteínas Mitocondriais/genética
NADH Desidrogenase/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Sequência de Bases
China/epidemiologia
Doença das Coronárias/genética
Feminino
Genes Mitocondriais
Seres Humanos
Masculino
Meia-Idade
Proteínas Mitocondriais/metabolismo
Mutação
NADH Desidrogenase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Mitochondrial Proteins); EC 1.6.99.3 (NADH Dehydrogenase); EC 1.6.99.3 (NADH dehydrogenase subunit 2, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170513
[St] Status:MEDLINE
[do] DOI:10.3967/bes2017.037


  10 / 3281 MEDLINE  
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[PMID]:28472892
[Au] Autor:Sellamuthu S; Singh M; Kumar A; Singh SK
[Ad] Endereço:a Pharmaceutical Chemistry Research Laboratory, Department of Pharmaceutics , Indian Institute of Technology (Banaras Hindu University) , Varanasi , India.
[Ti] Título:Type-II NADH Dehydrogenase (NDH-2): a promising therapeutic target for antitubercular and antibacterial drug discovery.
[So] Source:Expert Opin Ther Targets;21(6):559-570, 2017 Jun.
[Is] ISSN:1744-7631
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Tuberculosis (TB) is highly dangerous due to the development of resistance to first-line drugs. Moreover, Mycobacterium tuberculosis (Mtb) has also developed resistance to newly approved antitubercular drug bedaquiline. This necessitates the search for drugs acting on newer molecular targets. The energy metabolism of mycobacteria is the prime focus for the discovery of novel antitubercular drugs. Targeting type-2 NADH dehydrogenase (NDH-2) involved in the production of respiratory ATP could, therefore, be effective in treating the disease. Areas covered: This review describes the energetics of mycobacteria and the role of NDH-2 in ATP synthesis. Special attention has been given for genetic and chemical validations of NDH-2 as a molecular target. The reported kinetics and crystal structures of NDH-2 have been given in detail for better understanding of the enzyme. Expert opinion: NDH-2 is an essential enzyme for ATP synthesis and has a potential role in dormancy and persistence of Mtb. The human counterpart lacks this enzyme and hence NDH-2 inhibitors could have more clinical importance. Phenothiazines are potent inhibitor of NDH-2 and are effective against both drug-susceptible and drug-resistant Mtb. Thus, it is highly desirable to optimize phenothiazine class of compounds for the development of next generation anti-TB drugs.
[Mh] Termos MeSH primário: Antituberculosos/farmacologia
NADH Desidrogenase/antagonistas & inibidores
Tuberculose/tratamento farmacológico
[Mh] Termos MeSH secundário: Animais
Antibacterianos/farmacologia
Desenho de Drogas
Descoberta de Drogas
Resistência a Medicamentos Antineoplásicos
Seres Humanos
Terapia de Alvo Molecular
Mycobacterium tuberculosis/efeitos dos fármacos
Mycobacterium tuberculosis/metabolismo
NADH Desidrogenase/metabolismo
Fenotiazinas/farmacologia
Tuberculose/microbiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Anti-Bacterial Agents); 0 (Antitubercular Agents); 0 (Phenothiazines); EC 1.6.99.- (NADH dehydrogenase II); EC 1.6.99.3 (NADH Dehydrogenase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170605
[Lr] Data última revisão:
170605
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170506
[St] Status:MEDLINE
[do] DOI:10.1080/14728222.2017.1327577



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