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[PMID]:28916711
[Au] Autor:Huang P; Keller CA; Giardine B; Grevet JD; Davies JOJ; Hughes JR; Kurita R; Nakamura Y; Hardison RC; Blobel GA
[Ad] Endereço:Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
[Ti] Título:Comparative analysis of three-dimensional chromosomal architecture identifies a novel fetal hemoglobin regulatory element.
[So] Source:Genes Dev;31(16):1704-1713, 2017 Aug 15.
[Is] ISSN:1549-5477
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Chromatin structure is tightly intertwined with transcription regulation. Here we compared the chromosomal architectures of fetal and adult human erythroblasts and found that, globally, chromatin structures and compartments A/B are highly similar at both developmental stages. At a finer scale, we detected distinct folding patterns at the developmentally controlled ß-globin locus. Specifically, new fetal stage-specific contacts were uncovered between a region separating the fetal (γ) and adult (δ and ß) globin genes (encompassing the and noncoding genes) and two distal chromosomal sites (HS5 and 3'HS1) that flank the locus. In contrast, in adult cells, the - region contacts the embryonic ε-globin gene, physically separating the fetal globin genes from the enhancer (locus control region [LCR]). Deletion of the region in adult cells alters contact landscapes in ways more closely resembling those of fetal cells, including increased LCR-γ-globin contacts. These changes are accompanied by strong increases in γ-globin transcription. Notably, the effects of removal on chromatin architecture and gene expression closely mimic those of deleting the fetal globin repressor BCL11A, implicating BCL11A in the function of the region. Our results uncover a new critical regulatory region as a potential target for therapeutic genome editing for hemoglobinopathies and highlight the power of chromosome conformation analysis in discovering new control elements.
[Mh] Termos MeSH primário: Cromatina/química
Eritroblastos/metabolismo
Regulação da Expressão Gênica no Desenvolvimento
Elementos Reguladores de Transcrição
Globinas beta/genética
[Mh] Termos MeSH secundário: Adulto
Proteínas de Transporte/genética
Feto
Inativação Gênica
Seres Humanos
Região de Controle de Locus Gênico
Proteínas Nucleares/genética
Pseudogenes
Transcriptoma
gama-Globinas/genética
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BCL11A protein, human); 0 (Carrier Proteins); 0 (Chromatin); 0 (Nuclear Proteins); 0 (beta-Globins); 0 (gamma-Globins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171029
[Lr] Data última revisão:
171029
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170917
[St] Status:MEDLINE
[do] DOI:10.1101/gad.303461.117


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[PMID]:28851297
[Au] Autor:Breveglieri G; Bianchi N; Cosenza LC; Gamberini MR; Chiavilli F; Zuccato C; Montagner G; Borgatti M; Lampronti I; Finotti A; Gambari R
[Ad] Endereço:Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
[Ti] Título:An Aγ-globin G->A gene polymorphism associated with ß 39 thalassemia globin gene and high fetal hemoglobin production.
[So] Source:BMC Med Genet;18(1):93, 2017 Aug 29.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in ß-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify ß-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea). METHODS: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 ß-thalassemia patients, including 31 ß 39/ß 39, 33 ß 39/ß IVSI-110, 9 ß IVSI-110/ß IVSI-110, one ß IVSI-1/ß IVSI-6 and one ß 39/ß IVSI-6. RESULTS: The results show that the rs368698783 polymorphism is present in ß-thalassemia patients in the 5'UTR sequence (+25) of the Aγ-globin gene, known to affect the LYAR (human homologue of mouse Ly-1 antibody reactive clone) binding site 5'-GGTTAT-3'. This Aγ(+25 G->A) polymorphism is associated with the Gγ-globin-XmnI polymorphism and both are linked with the ß 39-globin gene, but not with the ß IVSI-110-globin gene. In agreement with the expectation that this mutation alters the LYAR binding activity, we found that the Aγ(+25 G->A) and Gγ-globin-XmnI polymorphisms are associated with high HbF in erythroid precursor cells isolated from ß 39/ß 39 thalassemia patients. CONCLUSIONS: As a potential explanation of our findings, we hypothesize that in ß-thalassemia the Gγ-globin-XmnI/Aγ-globin-(G->A) genotype is frequently under genetic linkage with ß -thalassemia mutations, but not with the ß -thalassemia mutation here studied (i.e. ß IVSI-110) and that this genetic combination has been selected within the population of ß -thalassemia patients, due to functional association with high HbF. Here we describe the characterization of the rs368698783 (+25 G->A) polymorphism of the Aγ-globin gene associated in ß 39 thalassemia patients with high HbF in erythroid precursor cells.
[Mh] Termos MeSH primário: Hemoglobina Fetal/biossíntese
Polimorfismo Genético
Talassemia beta/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Sítios de Ligação/genética
Proteínas de Ligação a DNA/metabolismo
Feminino
Seres Humanos
Desequilíbrio de Ligação
Masculino
Proteínas Nucleares/metabolismo
Mutação Puntual
Análise de Sequência de DNA
gama-Globinas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (LYAR protein, human); 0 (Nuclear Proteins); 0 (gamma-Globins); 9034-63-3 (Fetal Hemoglobin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170831
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0450-3


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[PMID]:28776729
[Au] Autor:Dai Y; Chen T; Ijaz H; Cho EH; Steinberg MH
[Ad] Endereço:Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, 02118.
[Ti] Título:SIRT1 activates the expression of fetal hemoglobin genes.
[So] Source:Am J Hematol;92(11):1177-1186, 2017 Nov.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:High fetal hemoglobin (HbF, α γ ) levels ameliorate the clinical manifestations of sickle cell disease and ß thalassemia. The mechanisms that repress HbF expression and silence γ-globin genes in adults are incompletely characterized and only a single HbF inducer, hydroxyurea, is approved for treatment, and only in patients with sickle cell disease. We identified SIRT1, a protein deacetylase, as a new inducer of γ-globin. SIRT1 knockdown decreased, while SIRT1 ectopic expression upregulated γ-globin gene (HBG) expression in primary human erythroid cells and in K562 cells. The small molecule SIRT1 activators SRT2104 and SRT1720 enhanced HBG expression in cord blood human erythroblasts and reactivated silenced HBG in adult human erythroblasts. Furthermore, SIRT1 binds in the ß-globin gene cluster locus control region (LCR) and HBG promoters, promotes the looping of the LCR to HBG promoter, and increases the binding of RNA polymerase II and H4K16Ac in the HBG promoter. SIRT1 suppressed the expression of the HBG suppressors BCL11A, KLF1, HDAC1 and HDAC2. Lastly, SIRT1 did not change the proliferation of human erythroid progenitor cells or the expression of differentiation marker CD235a. These data suggest that SIRT1 activates HBG expression through facilitating LCR looping to the HBG promoter, inhibiting the expression of transcriptional suppressors of HBG, and indirectly increasing histone acetylation in the HBG promoter. SIRT1 is a potential therapeutic target for γ-globin gene induction, and small molecule SIRT1 activators might serve as a lead compound for the development of new HbF inducers.
[Mh] Termos MeSH primário: Hemoglobina Fetal/genética
Regulação da Expressão Gênica
Sirtuína 1/metabolismo
Ativação Transcricional
gama-Globinas/genética
[Mh] Termos MeSH secundário: Diferenciação Celular/genética
Proliferação Celular/genética
Expressão Ectópica do Gene
Eritroblastos/metabolismo
Células Precursoras Eritroides/metabolismo
Eritropoese/genética
Hemoglobina Fetal/metabolismo
Técnicas de Silenciamento de Genes
Inativação Gênica
Seres Humanos
Células K562
Região de Controle de Locus Gênico
Especificidade de Órgãos/genética
Regiões Promotoras Genéticas
Ligação Proteica
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Sirtuína 1/genética
gama-Globinas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Messenger); 0 (gamma-Globins); 9034-63-3 (Fetal Hemoglobin); EC 3.5.1.- (Sirtuin 1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170805
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24879


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[PMID]:28736939
[Au] Autor:Habara AH; Shaikho EM; Steinberg MH
[Ad] Endereço:Department of Medicine, Boston University School of Medicine, Boston, Massachusetts, 02118.
[Ti] Título:Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents.
[So] Source:Am J Hematol;92(11):1233-1242, 2017 Nov.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fetal hemoglobin (HbF) has well-known tempering effects on the symptoms of sickle cell disease and its levels vary among patients with different haplotypes of the sickle hemoglobin gene. Compared with sickle cell anemia haplotypes found in patients of African descent, HbF levels in Saudi and Indian patients with the Arab-Indian (AI) haplotype exceed that in any other haplotype by nearly twofold. Genetic association studies have identified some loci associated with high HbF in the AI haplotype but these observations require functional confirmation. Saudi patients with the Benin haplotype have HbF levels almost twice as high as African patients with this haplotype but this difference is unexplained. Hydroxyurea is still the only FDA approved drug for HbF induction in sickle cell disease. While most patients treated with hydroxyurea have an increase in HbF and some clinical improvement, 10 to 20% of adults show little response to this agent. We review the genetic basis of HbF regulation focusing on sickle cell anemia in Saudi Arabia and discuss new drugs that can induce increased levels of HbF.
[Mh] Termos MeSH primário: Anemia Falciforme/sangue
Anemia Falciforme/genética
Hemoglobina Fetal/genética
[Mh] Termos MeSH secundário: Anemia Falciforme/tratamento farmacológico
Anemia Falciforme/metabolismo
Animais
Sítios de Ligação
Hemoglobina Fetal/metabolismo
Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos
Haplótipos
Hemoglobina Falciforme/genética
Seres Humanos
MicroRNAs/genética
MicroRNAs/metabolismo
Terapia de Alvo Molecular
Família Multigênica
Motivos de Nucleotídeos
Fenótipo
Ligação Proteica
Sequências Reguladoras de Ácido Nucleico
Fatores de Transcrição/metabolismo
Globinas beta/genética
gama-Globinas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Hemoglobin, Sickle); 0 (MicroRNAs); 0 (Transcription Factors); 0 (beta-Globins); 0 (gamma-Globins); 9034-63-3 (Fetal Hemoglobin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170725
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24872


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[PMID]:28659276
[Au] Autor:Wienert B; Martyn GE; Kurita R; Nakamura Y; Quinlan KGR; Crossley M
[Ad] Endereço:School of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW Sydney), Sydney, NSW, Australia.
[Ti] Título:KLF1 drives the expression of fetal hemoglobin in British HPFH.
[So] Source:Blood;130(6):803-807, 2017 Aug 10.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ß-Hemoglobinopathies are among the most common single-locus inherited diseases. In this condition, high fetal hemoglobin (HbF) levels have been found to be beneficial, and boosting HbF expression is seen as an attractive therapy. Naturally occurring mutations in the fetal promoter can result in high HbF persisting into adulthood in a benign condition known as hereditary persistence of fetal hemoglobin (HPFH). Individuals with one form of HPFH, British HPFH, carry a T to C substitution at position -198 of the fetal gene promoter. These individuals exhibit HbF levels of up to 20%, enough to ameliorate the symptoms of ß-hemoglobinopathies. Here, we use clustered regularly interspaced short palindromic repeat-mediated genome editing to introduce the -198 substitution into human erythroid HUDEP-2 cells and show that this mutation is sufficient to substantially elevate expression of HbF. We also examined the molecular mechanism underlying the increase in fetal expression. Through a combination of in vitro and in vivo studies, we demonstrate that the mutation creates a de novo binding site for the important erythroid gene activator Krüppel-like factor 1 (KLF1/erythroid KLF). Our results indicate that introducing this single naturally occurring mutation leads to significantly boosted HbF levels.
[Mh] Termos MeSH primário: Células Eritroides/metabolismo
Hemoglobina Fetal/genética
Fatores de Transcrição Kruppel-Like/metabolismo
Mutação Puntual
Regulação para Cima
gama-Globinas/genética
[Mh] Termos MeSH secundário: Linhagem Celular
Seres Humanos
Regiões Promotoras Genéticas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Kruppel-Like Transcription Factors); 0 (erythroid Kruppel-like factor); 0 (gamma-Globins); 9034-63-3 (Fetal Hemoglobin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170815
[Lr] Data última revisão:
170815
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170630
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-02-767400


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[PMID]:28415521
[Au] Autor:Wu K; Feng R; Jiao Y; Zhou C
[Ad] Endereço:Department of Materials Science and Engineering, Jinan University, 510630, China.
[Ti] Título:Effect of halloysite nanotubes on the structure and function of important multiple blood components.
[So] Source:Mater Sci Eng C Mater Biol Appl;75:72-78, 2017 Jun 01.
[Is] ISSN:1873-0191
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Many researchers have investigated the application of halloysite nanotubes (HNTs) in biomedicine, because of their special nanoscale hollow tubular structure. Although the cytocompatibility of HNTs has been studied, their blood compatibility has not been systematically investigated. In this work, the effect of HNTs on the structure and function of different blood components has been studied, including the morphology and hemolysis of red blood cells (RBCs). Based on scanning electron microscopy (SEM) observations, optical density test and flow cytometry analysis, we found that HNTs can affect the morphology and membrane integrity of RBCs in phosphate buffered saline (PBS) in a content-dependent way. In particular, based on UV-vis absorption spectra, fluorescence spectra and circular dichroism (CD) spectra, HNTs can alter the secondary structure and conformation of human fibrinogen and γ-globulins. In addition, the detection of biomarker molecules C3a and C5a in plasma suggests that HNTs can trigger complement activation. In the blood clotting assay, HNTs were found to significantly prolong the activated partial thromboplastin time (APTT), shorten the prothrombin time (PT) of platelet-poor plasma (PPP), and change the thromboelastography (TEG) parameters of whole blood coagulation. Furthermore, confocal laser scanning microscopy and flow cytometry analysis were used to test intracellular uptake by macrophages, and the cellular uptake of HNTs in the RAW 264.7 was found to be content-dependent, but not time-dependent. These findings provide insight for the potential use of HNTs as biofriendly nanocontainers for biomaterials in vivo.
[Mh] Termos MeSH primário: Silicatos de Alumínio
Membrana Eritrocítica
Fibrinogênio
Hemólise/efeitos dos fármacos
Nanotubos/química
gama-Globinas
[Mh] Termos MeSH secundário: Silicatos de Alumínio/química
Silicatos de Alumínio/farmacologia
Animais
Coagulação Sanguínea/efeitos dos fármacos
Bovinos
Membrana Eritrocítica/química
Membrana Eritrocítica/metabolismo
Fibrinogênio/química
Fibrinogênio/metabolismo
Seres Humanos
Camundongos
Células RAW 264.7
Relação Estrutura-Atividade
gama-Globinas/química
gama-Globinas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Aluminum Silicates); 0 (gamma-Globins); 1302-87-0 (clay); 9001-32-5 (Fibrinogen)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170419
[St] Status:MEDLINE


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[PMID]:28190779
[Au] Autor:Zhao HF; Abraham A; Kim YS; Wang YD; Pestina T; Zhan J; Humphries K; Nienhuis AW; Persons DA
[Ad] Endereço:Division of Experimental Hematology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
[Ti] Título:Lentiviral Transfer of γ-Globin with Fusion Gene NUP98-HOXA10HD Expands Hematopoietic Stem Cells and Ameliorates Murine ß-Thalassemia.
[So] Source:Mol Ther;25(3):593-605, 2017 Mar 01.
[Is] ISSN:1525-0024
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Recently, an engineered Homeobox-nucleoporin fusion gene, NUP98-HOXA10HD or NA10HD, was reported to expand and maintain murine hematopoietic stem cells (HSCs). We postulated that NA10HD would increase the number of human γ-globin-expressing cells to therapeutic levels. We developed a double gene lentiviral vector encoding both human γ-globin and NA10HD, which was used to transduce human peripheral blood CD34 cells and increased engraftment 2- to 2.5-fold at 15 weeks post-transplantation in immunodeficient mice. In ß-thalassemic mice transplanted with ß-thalassemic HSCs transduced with the γ-globin/NA10HD vector, the number of fetal hemoglobin (HbF)-expressing cells was significantly increased after 3 months, leading to resolution of the anemia. Furthermore, the increases in HbF were maintained at 6 months and persisted after secondary transplantation. In addition, NA10HD enrichment of transduced HSCs led to HbF increases without affecting homeostasis of the white blood cell lineages. Our results suggest that NA10HD increases the number of γ-globin-transduced HSCs that engraft, leading to an elevated number of fetal hemoglobin-containing red cells. These effects of NA10HD provide an improved platform for testing of the therapeutic efficacy of novel globin vectors and provide further impetus to develop safe and effective methods for selective expansion of genetically modified cells.
[Mh] Termos MeSH primário: Vetores Genéticos/genética
Células-Tronco Hematopoéticas/metabolismo
Proteínas de Homeodomínio/genética
Lentivirus/genética
Complexo de Proteínas Formadoras de Poros Nucleares/genética
Proteínas de Fusão Oncogênicas/genética
Talassemia beta/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Eritrócitos/citologia
Eritrócitos/metabolismo
Hemoglobina Fetal/metabolismo
Ordem dos Genes
Técnicas de Transferência de Genes
Loci Gênicos
Sobrevivência de Enxerto
Transplante de Células-Tronco Hematopoéticas
Seres Humanos
Camundongos
Transdução Genética
Transplante Heterólogo
Talassemia beta/metabolismo
Talassemia beta/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (Nuclear Pore Complex Proteins); 0 (Oncogene Proteins, Fusion); 0 (gamma-Globins); 0 (nuclear pore complex protein 98); 140441-81-2 (HOXA10 protein, human); 9034-63-3 (Fetal Hemoglobin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170927
[Lr] Data última revisão:
170927
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170214
[St] Status:MEDLINE


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[PMID]:27616638
[Au] Autor:Walker AL; Ofori-Acquah SF
[Ad] Endereço:Division of Pulmonary, Allergy and Critical Care Medicine, Vascular Medicine Institute, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA; Center for Translational and International Hematology, Vascular Medicine Institute, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA. Electronic address: alw162@pitt.edu.
[Ti] Título:Sustained enhancement of OCTN1 transporter expression in association with hydroxyurea induced γ-globin expression in erythroid progenitors.
[So] Source:Exp Hematol;45:69-73.e2, 2017 Jan.
[Is] ISSN:1873-2399
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The clinical benefits of hydroxyurea (HU) treatment in patients with sickle cell disease (SCD) are due largely to increased γ-globin expression. However, mechanisms that control γ-globin expression by HU in erythroid progenitors are incompletely understood. Here, we investigated the role of two HU transporters, urea transporter B (UTB) and organic cation/carnitine transporter 1 (OCTN1), in this process. Endogenous expression of both transporters peaked toward the end of erythroid differentiation. However, unlike UTB, HU-induced OCTN1 expression correlated positively with γ-globin level and was sustained throughout the period of induction. These results highlight a potential major role for OCTN1 in promoting the efficacy of HU.
[Mh] Termos MeSH primário: Células Precursoras Eritroides/efeitos dos fármacos
Células Precursoras Eritroides/metabolismo
Regulação da Expressão Gênica/efeitos dos fármacos
Hidroxiureia/farmacologia
Proteínas de Transporte de Cátions Orgânicos/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Biomarcadores
Linhagem Celular
Células Cultivadas
Citometria de Fluxo
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Organic Cation Transport Proteins); 0 (SLC22A4 protein, human); 0 (gamma-Globins); X6Q56QN5QC (Hydroxyurea)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160913
[St] Status:MEDLINE


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Costa, Fernando F
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[PMID]:27591578
[Au] Autor:Fornari TA; Lanaro C; Albuquerque DM; Ferreira R; Costa FF
[Ad] Endereço:Hemocentro-UNICAMP - SP, Brazil, São Paulo 13083-878, Brazil.
[Ti] Título:Featured Article: Modulation of fetal hemoglobin in hereditary persistence of fetal hemoglobin deletion type-2, compared to Sicilian δß-thalassemia, by BCL11A and SOX6-targeting microRNAs.
[So] Source:Exp Biol Med (Maywood);242(3):267-274, 2017 Feb.
[Is] ISSN:1535-3699
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) and Sicilian-δß-thalassemia are conditions described as large deletions of the human ß-like globin cluster, with absent ß-globin chains and a compensatory variable increase in γ-globin. HPFH, in general, may be distinguished from DB-Thalassemia by higher fetal hemoglobin (HbF) levels, absence of anemia and hypochromic and microcytic erythrocytes. MicroRNAs (miRNAs) regulate a range of cellular processes including erythropoiesis and regulation of transcription factors such as the BCL11A and SOX6 genes, which are related to the regulation of γ-globin expression. In this report, a possible association among the overexpression of miRNAs and the expression of the γ-globin gene was analyzed in these two conditions. Forty-nine differentially expressed miRNAs were identified by microarrays in CD34+-derived erythroid cells of two subjects heterozygous for Sicilian-δß-thalassemia, 2 for HPFH-2 and 3 for controls after 13 days of culture. Some of these miRNAs may participate in γ-globin gene regulation and red blood cell function. The BCL11A gene was found to be potentially targeted by 12 miRNAs that were up-regulated in HPFH-2 or in DB-Thal. A down-regulation of BCL11A gene expression in HPFH-2 was verified by quantitative polymerase chain reaction. These data suggest an important action for miRNA that may partially explain the phenotypic differences between HPFH-2 and Sicilian δß-thalassemia and the increased expression of γ-globin in these conditions.
[Mh] Termos MeSH primário: Proteínas de Transporte/genética
Hemoglobina Fetal/genética
MicroRNAs/genética
Proteínas Nucleares/genética
Fatores de Transcrição SOXD/genética
Globinas beta/genética
Talassemia beta/genética
Talassemia delta/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Antígenos CD34/metabolismo
Sequência de Bases
Regulação para Baixo/genética
Feminino
Seres Humanos
Masculino
MicroRNAs/biossíntese
Reação em Cadeia da Polimerase em Tempo Real
Análise de Sequência de DNA
Deleção de Sequência/genética
gama-Globinas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD34); 0 (BCL11A protein, human); 0 (Carrier Proteins); 0 (MicroRNAs); 0 (Nuclear Proteins); 0 (SOX6 protein, human); 0 (SOXD Transcription Factors); 0 (beta-Globins); 0 (gamma-Globins); 9034-63-3 (Fetal Hemoglobin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160904
[St] Status:MEDLINE
[do] DOI:10.1177/1535370216668052


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[PMID]:27496792
[Au] Autor:Otabe S; Nakayama H; Ohki T; Soejima E; Tajiri Y; Yamada K
[Ad] Endereço:1 Division of Endocrinology and Metabolism, Department of Medicine, Kurume University School of Medicine, Kurume, Japan.
[Ti] Título:Haemoglobin variants may cause significant differences in haemoglobin A1c as measured by high-performance liquid chromatography and enzymatic methods in diabetic patients: a cross-sectional study.
[So] Source:Ann Clin Biochem;54(4):432-437, 2017 Jul.
[Is] ISSN:1758-1001
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Background We aimed to determine whether the discrepancy between haemoglobin A1c values determined by high-performance liquid chromatography and enzymatic haemoglobin A1c measurements in diabetic patients was clinically relevant. Methods We randomly recruited 1421 outpatients undergoing diabetic treatment and follow-up who underwent at least three haemoglobin A1c measurements between April 2014 and March 2015 at our clinic. In 6369 samples, haemoglobin A1c was simultaneously measured by HA-8160 and MetaboLead (enzymatic assay), and the values were compared. Results haemoglobin A1c measurements by high-performance liquid chromatography and enzymatic assay were strongly correlated (correlation coefficient: 0.9828, linear approximation curve y = 0.9986x - 0.2507). Mean haemoglobin A1c (6.8 ± 1.0%) measured by high-performance liquid chromatography was significantly higher than that measured by enzymatic assay (6.5 ± 1.0%, P < 0.0001). During the sample processing, four (0.3%) subjects presented consistently lower haemoglobin A1c values (<0.7%) by high-performance liquid chromatography than those from enzymatic assay. Of these, three had Hb Toranomon [ß112 (G14) Cys→Trp]. The fourth had Hb Ube-2 [α68 (E17) Asn→Asp]. One other subject presented consistently higher haemoglobin A1c values (>1%) by high-performance liquid chromatography than those from enzymatic assay and was diagnosed with a -77 (T > C) mutation in the δ-globin gene. These unrelated asymptomatic subjects had normal erythrocyte profiles, without anaemia. Conclusions We showed that haemoglobin A1c values measured by high-performance liquid chromatography were significantly higher than those measured by enzymatic assay in diabetic subjects. However, when an oversized deviation (>0.7%) between glycaemic control status and haemoglobin A1c is apparent, clinicians should check the methods used to measure haemoglobin A1c and consider the possible presence of a haemoglobin variant.
[Mh] Termos MeSH primário: Artefatos
Diabetes Mellitus/diagnóstico
Hemoglobina A Glicada/genética
Hemoglobinas Anormais/genética
gama-Globinas/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Cromatografia Líquida de Alta Pressão/estatística & dados numéricos
Diabetes Mellitus/sangue
Ensaios Enzimáticos/estatística & dados numéricos
Feminino
Expressão Gênica
Hemoglobina A Glicada/análise
Hemoglobinas Anormais/análise
Seres Humanos
Masculino
Meia-Idade
Mutação
Pacientes Ambulatoriais
Controle de Qualidade
Sensibilidade e Especificidade
gama-Globinas/análise
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycated Hemoglobin A); 0 (Hemoglobins, Abnormal); 0 (gamma-Globins); 0 (hemoglobin A1c protein, human); 0 (hemoglobin Toranomon); 9035-30-7 (hemoglobin UBE-2)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160807
[St] Status:MEDLINE
[do] DOI:10.1177/0004563216664366



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