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[PMID]: 29523504
[Au] Autor:Casu C; Nemeth E; Rivella S
[Ad] Address:Department of Pediatrics, Division of Hematology, Children's Hospital of Philadelphia, United States.
[Ti] Title:Hepcidin agonists as therapeutic tools.
[So] Source:Blood;, 2018 Mar 09.
[Is] ISSN:1528-0020
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hepcidin agonists are a new class of compounds that regulate blood iron levels and limit iron absorption, and could improve the treatment of hemochromatosis, ß-thalassemia, polycythemia vera, and other disorders where disrupted iron homeostasis causes disease or contributes to it. Hepcidin agonists also have the potential to prevent severe complications of siderophilic infections in patients with iron overload or chronic liver disease. This review highlights the preclinical studies that support the development of hepcidin agonists for the treatment of these disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

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[PMID]: 29454332
[Au] Autor:Scotet V; Saliou P; Uguen M; L'Hostis C; Merour MC; Triponey C; Chanu B; Nousbaum JB; Le Gac G; Ferec C
[Ad] Address:UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", Inserm, EFS, Université de Brest, ISBAM, 22 avenue Camille Desmoulins, 29200, Brest, France. virginie.scotet@univ-brest.fr.
[Ti] Title:Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
[So] Source:BMC Pregnancy Childbirth;18(1):53, 2018 02 17.
[Is] ISSN:1471-2393
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: HFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis. This autosomal recessive disease typically manifests later in women than men. Although it is commonly stated that pregnancy is, with menses, one of the factors that offsets iron accumulation in women, no epidemiological study has yet supported this hypothesis. The aim of our study was to evaluate the influence of pregnancy on expression of the predominant HFE p.[Cys282Tyr];[Cys282Tyr] genotype. METHODS: One hundred and forty p.Cys282Tyr homozygous women enrolled in a phlebotomy program between 2004 and 2011 at a blood centre in western Brittany (France) were included in the study. After checking whether the disease expression was delayed in women than in men in our study, the association between pregnancy and iron overload was assessed using multivariable regression analysis. RESULTS: Our study confirms that women with HFE hemochromatosis were diagnosed later than men cared for during the same period (52.6 vs. 47.4 y., P < 0.001). Compared to no pregnancy, having at least one pregnancy was not associated with lower iron markers. In contrast, the amount of iron removed by phlebotomies appeared significantly higher in women who had at least one pregnancy (e = 1.50, P = 0.047). This relationship disappeared after adjustment for confounding factors (e = 1.35, P = 0.088). CONCLUSIONS: Our study shows that pregnancy status has no impact on iron markers level, and is not in favour of pregnancy being a protective factor in progressive iron accumulation. Our results are consistent with recent experimental data suggesting that the difference in disease expression observed between men and women may be explained by other factors such as hormones.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process
[do] DOI:10.1186/s12884-018-1684-6

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[PMID]: 29518107
[Au] Autor:Tisato V; Zuliani G; Vigliano M; Longo G; Franchini E; Secchiero P; Zauli G; Paraboschi EM; Vikram Singh A; Serino ML; Ortolani B; Zurlo A; Bosi C; Greco A; Seripa D; Asselta R; Gemmati D
[Ad] Address:Department of Morphology, Surgery and Experimental Medicine and LTTA Centre, University of Ferrara, Ferrara, Italy.
[Ti] Title:Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.
[So] Source:PLoS One;13(3):e0193867, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cognitive impairments of different aetiology share alterations in iron and lipid homeostasis with mutual relationships. Since iron and cholesterol accumulation impact on neurodegenerative disease, the associated gene variants are appealing candidate targets for risk and disease progression assessment. In this light, we explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes and in the main lipoprotein transporter gene (APOE) in a cohort of 765 patients with dementia of different origin: Alzheimer's disease (AD) n = 276; vascular dementia (VaD), n = 255; mild cognitive impairment (MCI), n = 234; and in normal controls (n = 1086). In details, four genes of iron homeostasis (Hemochromatosis (HFE: C282Y, H63D), Ferroportin (FPN1: -8CG), Hepcidin (HAMP: -582AG), Transferrin (TF: P570S)), and the three major alleles of APOE (APOE2, APOE3, APOE4) were analyzed to explore causative interactions and synergies. In single analysis, HFE 282Y allele yielded a 3-fold risk reduction in the whole cohort of patients (P<0.0001), confirmed in AD and VaD, reaching a 5-fold risk reduction in MCI (P = 0.0019). The other iron SNPs slightly associated with risk reduction whereas APOE4 allele resulted in increased risk, reaching more than 7-fold increased risk in AD homozygotes (P = 0.001), confirmed to a lower extent in VaD and MCI (P = 0.038 and P = 0.013 respectively) as well as in the whole group (P<0.0001). Comparisons of Mini Mental State Examination (MMSE) among AD showed appreciable lowering in APOE4 carriers (P = 0.038), confirmed in the whole cohort of patients (P = 0.018). In interaction analysis, the HFE 282Y allele completely extinguished the APOE4 allele associated risk. Conversely, the coexistence in patients of a substantial number of iron SNPs accrued the APOE4 detrimental effect on MMSE. Overall, the analysis highlighted how a specific iron-allele burden, defined as different combinations of iron gene variants, might have different effects on cognitive impairment and might modulate the effects of established genetic risk factors such as APOE4. Our results suggest that established genetic risk factors might be affected by specific genetic backgrounds, making patients differently suited to manage iron accumulation adding new genetic insights in neurodegeneration. The recently recognized interconnections between iron and lipids, suggest that these pathways might share more than expected. We therefore extended to additional iron gene variants the newly proposed influencing mechanisms that HFE gene has on cholesterol metabolism. Our results have a strong translational potential promoting new pharmacogenetics studies on therapeutic target identification aimed at optimally tuning brain iron levels.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0193867

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[PMID]: 29508053
[Au] Autor:Bause L; Niemeier A; Krenn V
[Ad] Address:Klinik für Rheumaorthopädie, St. Josef-Stift Sendenhorst, Sendenhorst, Deutschland.
[Ti] Title:Arthur-Vick-Preis der Deutschen Gesellschaft für Orthopädische Rheumatologie 2017. [Arthur Vick Prize 2017 of the German Society of Orthopaedic Rheumatology].
[So] Source:Z Rheumatol;77(2):168-174, 2018 Mar.
[Is] ISSN:1435-1250
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:The German Society of Orthopaedic Rheumatology (DGORh) honored Prof. Dr. med. Veit Krenn (MVZ-ZHZMD-Trier) with the Arthur Vick Prize 2017. With this award, scientific results with high impact on the diagnosis, therapy and pathogenetic understanding of rheumatic diseases are honored. In cooperation with pathologists and colleagues from various clinical disciplines Prof. Dr. med. Veit Krenn developed several histopathologic scoring systems which contribute to the diagnosis and pathogenetic understanding of degenerative and rheumatic diseases. These scores include the synovitis score, the meniscal degeneration score, the classification of periprosthetic tissues (SLIM classification), the arthrofibrosis score, the particle score and the CD15 focus score. Of highest relevance for orthopedic rheumatology is the synovitis score which is a semiquantitative score for evaluating immunological and inflammatory changes of synovitis in a graded manner. Based on this score, it is possible to divide results into low-grade synovitis and high-grade synovitis: a synovitis score of 1-4 is called low-grade synovitis and occurs for example in association with osteoarthritis (OA), post-trauma, with meniscal lesions and hemochromatosis. A synovitis score of 5-9 is called high-grade synovitis, e.g. rheumatoid arthritis, psoriatic arthritis, Lyme arthritis, postinfection and reactive arthritis as well as peripheral arthritis with Bechterew's disease (sensitivity 61.7%, specificity 96.1%). The first publication (2002) and an associated subsequent publication (2006) of the synovitis score has led to national and international acceptance of this score as the standard for histopathological assessment of synovitis. The synovitis score provides a diagnostic, standardized and reproducible histopathological evaluation method for joint diseases, particularly when this score is applied in the context with the joint pathology algorithm.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Process
[do] DOI:10.1007/s00393-018-0433-6

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[PMID]: 29467298
[Au] Autor:Hsu JL; Manouvakhova OV; Clemons KV; Inayathullah M; Tu AB; Sobel RA; Tian A; Nazik H; Pothineni VR; Pasupneti S; Jiang X; Dhillon GS; Bedi H; Rajadas J; Haas H; Aurelian L; Stevens DA; Nicolls MR
[Ad] Address:Division of Pulmonary and Critical Care Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
[Ti] Title:Microhemorrhage-associated tissue iron enhances the risk for invasion in a mouse model of airway transplantation.
[So] Source:Sci Transl Med;10(429), 2018 Feb 21.
[Is] ISSN:1946-6242
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Invasive pulmonary disease due to the mold can be life-threatening in lung transplant recipients, but the risk factors remain poorly understood. To study this process, we used a tracheal allograft mouse model that recapitulates large airway changes observed in patients undergoing lung transplantation. We report that microhemorrhage-related iron content may be a major determinant of invasion and, consequently, its virulence. Invasive growth was increased during progressive alloimmune-mediated graft rejection associated with high concentrations of ferric iron in the graft. The role of iron in invasive growth was further confirmed by showing that this invasive phenotype was increased in tracheal transplants from donor mice lacking the hemochromatosis gene ( ). The invasive phenotype was also increased in mouse syngrafts treated with topical iron solution and in allograft recipients receiving deferoxamine, a chelator that increases iron bioavailability to the mold. The invasive growth of the iron-intolerant double-knockout mutant (Δ /Δ ) was lower than that of the wild-type mold. Alloimmune-mediated microvascular damage and iron overload did not appear to impair the host's immune response. In human lung transplant recipients, positive staining for iron in lung transplant tissue was more commonly seen in endobronchial biopsy sections from transplanted airways than in biopsies from the patients' own airways. Collectively, these data identify iron as a major determinant of invasive growth and a potential target to treat or prevent infections in lung transplant patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review

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[PMID]: 29511150
[Au] Autor:Walczak-Galezewska M; Szulinska M; Pupek-Musialik D; Bogdanski P
[Ti] Title:Gastroscopy findings in a patient with signet ring cell carcinoma and late­onset hereditary hemochromatosis.
[So] Source:Pol Arch Intern Med;128(2):132-133, 2018 Feb 28.
[Is] ISSN:1897-9483
[Cp] Country of publication:Poland
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.20452/pamw.4213

  7 / 8640 MEDLINE  
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[PMID]: 29388418
[Au] Autor:Kleven MD; Jue S; Enns CA
[Ad] Address:Department of Cell, Cancer and Developmental Biology , Oregon Health & Science University , 3181 SW Sam Jackson Park Road , Portland , Oregon 97201 , United States.
[Ti] Title:Transferrin Receptors TfR1 and TfR2 Bind Transferrin through Differing Mechanisms.
[So] Source:Biochemistry;57(9):1552-1559, 2018 Mar 06.
[Is] ISSN:1520-4995
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hereditary hemochromatosis (HH), a disease marked by chronic iron overload from insufficient expression of the hormone hepcidin, is one of the most common genetic diseases. One form of HH (type III) results from mutations in transferrin receptor-2 (TfR2). TfR2 is postulated to be a part of signaling system that is capable of modulating hepcidin expression. However, the molecular details of TfR2's role in this system remain unclear. TfR2 is predicted to bind the iron carrier transferrin (Tf) when the iron saturation of Tf is high. To better understand the nature of these TfR-Tf interactions, a binding study with the full-length receptors was conducted. In agreement with previous studies with truncated forms of these receptors, holo-Tf binds to the TfR1 homologue significantly stronger than to TfR2. However, the binding constant for Tf-TfR2 is still far above that of physiological holo-Tf levels, inconsistent with the hypothetical model, suggesting that other factors mediate the interaction. One possible factor, apo-Tf, only weakly binds TfR2 at serum pH and thus will not be able to effectively compete with holo-Tf. Tf binding to a TfR2 chimera containing the TfR1 helical domain indicates that the differences in the helical domain account for differences in the on rate of Tf, and nonconserved inter-receptor interactions are necessary for the stabilization of the complex. Conserved residues at one possible site of stabilization, the apical arm junction, are not important for TfR1-Tf binding but are critical for the TfR2-Tf interaction. Our results highlight the differences in Tf interactions with the two TfRs.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1021/acs.biochem.8b00006

  8 / 8640 MEDLINE  
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[PMID]: 29237594
[Au] Autor:Aschemeyer S; Qiao B; Stefanova D; Valore EV; Sek AC; Ruwe TA; Vieth KR; Jung G; Casu C; Rivella S; Jormakka M; Mackenzie B; Ganz T; Nemeth E
[Ad] Address:Molecular Biology Interdepartmental Doctoral Program.
[Ti] Title:Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.
[So] Source:Blood;131(8):899-910, 2018 Feb 22.
[Is] ISSN:1528-0020
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Nonclassical ferroportin disease (FD) is a form of hereditary hemochromatosis caused by mutations in the iron transporter ferroportin (Fpn), resulting in parenchymal iron overload. Fpn is regulated by the hormone hepcidin, which induces Fpn endocytosis and cellular iron retention. We characterized 11 clinically relevant and 5 nonclinical Fpn mutations using stably transfected, inducible isogenic cell lines. All clinical mutants were functionally resistant to hepcidin as a consequence of either impaired hepcidin binding or impaired hepcidin-dependent ubiquitination despite intact hepcidin binding. Mapping the residues onto 2 computational models of the human Fpn structure indicated that (1) mutations that caused ubiquitination-resistance were positioned at helix-helix interfaces, likely preventing the hepcidin-induced conformational change, (2) hepcidin binding occurred within the central cavity of Fpn, (3) hepcidin interacted with up to 4 helices, and (4) hepcidin binding should occlude Fpn and interfere with iron export independently of endocytosis. We experimentally confirmed hepcidin-mediated occlusion of Fpn in the absence of endocytosis in multiple cellular systems: HEK293 cells expressing an endocytosis-defective Fpn mutant (K8R), oocytes expressing wild-type or K8R Fpn, and mature human red blood cells. We conclude that nonclassical FD is caused by Fpn mutations that decrease hepcidin binding or hinder conformational changes required for ubiquitination and endocytosis of Fpn. The newly documented ability of hepcidin and its agonists to occlude iron transport may facilitate the development of broadly effective treatments for hereditary iron overload disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review
[do] DOI:10.1182/blood-2017-05-786590

  9 / 8640 MEDLINE  
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[PMID]: 28465342
[Au] Autor:Stefanova D; Raychev A; Arezes J; Ruchala P; Gabayan V; Skurnik M; Dillon BJ; Horwitz MA; Ganz T; Bulut Y; Nemeth E
[Ad] Address:Molecular, Cellular, and Integrative Physiology Graduate Program and.
[Ti] Title:Endogenous hepcidin and its agonist mediate resistance to selected infections by clearing non-transferrin-bound iron.
[So] Source:Blood;130(3):245-257, 2017 07 20.
[Is] ISSN:1528-0020
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The iron-regulatory hormone hepcidin is induced early in infection, causing iron sequestration in macrophages and decreased plasma iron; this is proposed to limit the replication of extracellular microbes, but could also promote infection with macrophage-tropic pathogens. The mechanisms by which hepcidin and hypoferremia modulate host defense, and the spectrum of microbes affected, are poorly understood. Using mouse models, we show that hepcidin was selectively protective against siderophilic extracellular pathogens ( O9) by controlling non-transferrin-bound iron (NTBI) rather than iron-transferrin concentration. NTBI promoted the rapid growth of siderophilic but not nonsiderophilic bacteria in mice with either genetic or iatrogenic iron overload and in human plasma. Hepcidin or iron loading did not affect other key components of innate immunity, did not indiscriminately promote intracellular infections ( ), and had no effect on extracellular nonsiderophilic O8 or Hepcidin analogs may be useful for treatment of siderophilic infections.
[Mh] MeSH terms primary: Catheter-Related Infections/immunology
Hemochromatosis/immunology
Hepcidins/immunology
Iron Overload/immunology
Iron/metabolism
Staphylococcal Infections/immunology
[Mh] MeSH terms secundary: Animals
Binding, Competitive
Catheter-Related Infections/metabolism
Catheter-Related Infections/microbiology
Catheter-Related Infections/mortality
Disease Models, Animal
Disease Resistance
Gene Expression
Hemochromatosis/metabolism
Hemochromatosis/microbiology
Hemochromatosis/mortality
Hepcidins/agonists
Hepcidins/deficiency
Hepcidins/genetics
Humans
Iron/immunology
Iron Overload/metabolism
Iron Overload/microbiology
Iron Overload/mortality
Mice
Mice, Inbred C57BL
Mice, Knockout
Mycobacterium tuberculosis/drug effects
Mycobacterium tuberculosis/growth & development
Mycobacterium tuberculosis/metabolism
Oligopeptides/pharmacology
Protein Binding
Staphylococcal Infections/metabolism
Staphylococcal Infections/microbiology
Staphylococcal Infections/mortality
Staphylococcus aureus
Survival Analysis
Transferrin/genetics
Transferrin/metabolism
Yersinia enterocolitica/drug effects
Yersinia enterocolitica/growth & development
Yersinia enterocolitica/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Hamp1 protein, mouse); 0 (Hepcidins); 0 (Oligopeptides); 0 (Transferrin); E1UOL152H7 (Iron)
[Em] Entry month:1708
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:170504
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-03-772715

  10 / 8640 MEDLINE  
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[PMID]: 29499991
[Au] Autor:Taylor SA; Kelly S; Alonso EM; Whitington PF
[Ad] Address:Department of Pediatrics, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL. Electronic address: sataylor@luriechildrens.org.
[Ti] Title:The Effects of Gestational Alloimmune Liver Disease on Fetal and Infant Morbidity and Mortality.
[So] Source:J Pediatr;, 2018 Feb 27.
[Is] ISSN:1097-6833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: To evaluate pregnancy outcomes in pedigrees of neonatal hemochromatosis to determine the spectrum of gestational alloimmune liver disease (GALD) in a large cohort. STUDY DESIGN: We prospectively collected data from women with a prior offspring with proven neonatal hemochromatosis between 1997 and 2015 and analyzed pregnancy outcomes. RESULTS: The pedigrees from 150 women included 350 gestations with outcomes potentially related to GALD. There were 105 live-born infants without liver disease, 157 live-born infants with liver failure, and 88 fetal losses. Fetal loss occurred in 25% of total gestations. Ninety-seven pedigrees contained a single affected offspring, whereas 53 contained multiple affected offspring. Analysis of these 53 pedigrees yielded a per-pregnancy repeat occurrence rate of 95%. Notably, the first poor outcome occurred in the first pregnancy in 60% of pedigrees. Outcomes of the 157 live-born infants with liver failure were poor: 18% survived, 82% died. Of the 134 live-born infants with treatment data, 20 received intravenous immunoglobulin with or without double-volume exchange transfusion of which 9 (45%) survived; 14 infants (10%) received a liver transplant of which 6 (43%) survived. CONCLUSIONS: GALD is a significant cause of both fetal loss and neonatal mortality with a high rate of disease recurrence in untreated pregnancies at risk. Poor outcomes related to GALD commonly occur in the first gestation, necessitating a high index of suspicion to diagnose this disorder at first presentation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher


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