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Article: Associated Effect of

Duca, Lorena / Granata, Francesca / Di Pierro, Elena / Brancaleoni, Valentina / Graziadei, Giovanna / Nava, Isabella

2022 Volume 12, Issue 10

Abstract: Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the development of iron deficiencies. In this study, we determined the role of FPN and TMPRSS6 gene ... ...

Abstract	Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the development of iron deficiencies. In this study, we determined the role of FPN and TMPRSS6 gene polymorphisms in the modulation of iron homeostasis based on biochemical parameters. PCR analysis and sequencing were performed to determine the single nucleotide polymorphisms (SNPs) SLC40A1 c.44−24G>C (rs1439816), SLC40A1 c.663T>C (rs2304704), and TMPRSS6 c.2207T>C (rs855791). Hemoglobin concentration and iron status were determined by standard procedures. We studied 79 iron-loaded individuals for SLC40A1 polymorphisms. Interestingly, 35/79 individuals with SLC40A1 SNPs also carried a TMPRSS6 c.2207T>C polymorphism. The biochemical values of the iron overloaded individuals were compared to those of the individuals carrying TMPRSS6 SNPs and the healthy individuals (wild-type group). The ferritin concentration, transferrin saturation % (TS%), and hemoglobin concentration were significantly higher in the participants with FPN SNPs than in the other three groups. The ferritin concentration and TS% were higher in participants with both SLC40A1 and TMPRSS6 SNPs than in the TMPRSS6 and wild-type groups, while hemoglobin concentration was significantly higher than that in the TMPRSS6 SNP group only. The participants with TMPRSS6 SNPs had significantly lower ferritin concentration, TS%, and hemoglobin concentration than all the other groups. SLC40A1 and TMPRSS6 SNPs might act in the opposite direction, preventing the development of severe iron overload, and the modulation of the iron status by TMPRSS6 SNPs might provide protection.
Language	English
Publishing date	2022-09-29
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662251-8
ISSN	2218-1989
ISSN	2218-1989
DOI	10.3390/metabo12100919
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Article: Activin Receptor-Ligand Trap for the Treatment of β-thalassemia: A Serendipitous Discovery.

Brancaleoni, Valentina / Nava, Isabella / Delbini, Paola / Duca, Lorena / Motta, Irene

Mediterranean journal of hematology and infectious diseases

2020 Volume 12, Issue 1, Page(s) e2020075

Abstract: β-thalassemia is a hereditary disorder caused by defective production of β-globin chains of hemoglobin (Hb) that leads to an increased α/β globins ratio with subsequent free α-globins. Alpha globin excess causes oxidative stress, red blood cells membrane ...

Abstract	β-thalassemia is a hereditary disorder caused by defective production of β-globin chains of hemoglobin (Hb) that leads to an increased α/β globins ratio with subsequent free α-globins. Alpha globin excess causes oxidative stress, red blood cells membrane damage, premature death of late-stage erythroid precursors, resulting in ineffective erythropoiesis. The transforming growth factor β (TGF-β) superfamily signaling acts on biological processes, such as cell quiescence, apoptosis, proliferation, differentiation, and migration, and plays an essential role in regulating the hematopoiesis. This pathway can lose its physiologic regulation in pathologic conditions, leading to anemia and ineffective erythropoiesis. Activin receptor-ligand trap molecules such as Sotatercept and Luspatercept downregulate the TGF-β pathway, thus inhibiting the Smad2/3 cascade and alleviating anemia in patients with β-thalassemia and myelodysplastic syndromes. In this review, we describe
Language	English
Publishing date	2020-11-01
Publishing country	Italy
Document type	Journal Article ; Review
ZDB-ID	2674750-9
ISSN	2035-3006
ISSN	2035-3006
DOI	10.4084/MJHID.2020.075
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Article: Microcytosis in Erythropoietic Protoporphyria.

Graziadei, Giovanna / Duca, Lorena / Granata, Francesca / De Luca, Giacomo / De Giovanni, Anna / Brancaleoni, Valentina / Nava, Isabella / Di Pierro, Elena

Frontiers in physiology

2022 Volume 13, Page(s) 841050

Abstract: Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP) in humans. This disorder is characterized by painful skin photosensitivity, due to excessive ... ...

Abstract	Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP) in humans. This disorder is characterized by painful skin photosensitivity, due to excessive protoporphyrin IX (PPIX) production in erythrocytes. Although several papers report the presence of iron deficiency anemia in about 50% of EPP patients, there is still no a conclusive explanation of the why this occurs. In the present work, we explored hematological indices and iron status in 20 unrelated Italian EPP patients in order to propose a new hypothesis. Our data show that microcytosis is present in EPP patients also in the absence of anemia and iron deficiency with a link between PPIX accumulation and reduced MCV, probably indicating an indirect condition of heme deficiency. Patients studied had a downward shift of iron parameters due to increased hepcidin concentrations only in a state of repleted iron stores. Interestingly, hemoglobin synthesis was not limited by iron supply except in cases with further iron loss, in which concomitantly increased soluble transferrin (Tf) receptor (sTfR) levels were detected. The mechanisms involved in the iron uptake downregulation in EPP remain unclear, and the role of PPIX accumulation in microcytosis.
Language	English
Publishing date	2022-03-03
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2022.841050
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Article ; Online: Alternative Pathway Involvement in Protoporphyria Patients Related to Sun Exposure.

Granata, Francesca / Duca, Lorena / Brancaleoni, Valentina / Fustinoni, Silvia / De Luca, Giacomo / Motta, Irene / Graziadei, Giovanna / Di Pierro, Elena

Frontiers in immunology

2021 Volume 12, Page(s) 615620

Abstract: The homeostasis of tissues in a chronic disease is an essential function of the alternative pathway (AP) of the complement system (CS). However, if not controlled, it may also be detrimental to healthy cells with a consequent aggravation of symptoms. The ...

Abstract	The homeostasis of tissues in a chronic disease is an essential function of the alternative pathway (AP) of the complement system (CS). However, if not controlled, it may also be detrimental to healthy cells with a consequent aggravation of symptoms. The protoporphyria (PP) is a rare chronic disease that causes phototoxicity in visible light with local skin pain and general malaise. In order to establish if there is a systemic involvement of the CS during sun exposure, we designed a non-invasive method with a serum collection in winter and summer from 19 PP and 13 controls to detect the levels of CS protein: Properdin, Factor H (FH), and C5. Moreover, the global radiation data were collected from the regional agency of environmental protection (ARPA). The results show growing values for every protein in patients with PP, compared to control, in both seasons, in particular in summer compared to winter. To reinforce the evidence, we have estimated the personal exposure of patients based on the global radiation data. The main factors of the AP increased over the season, confirming the involvement of the AP in relation to light exposure. The systemic response could justify the general malaise of patients after long light exposure and can be exploited to elucidate new therapeutic approaches.
MeSH term(s)	Adult ; Biomarkers ; Complement C5/immunology ; Complement C5/metabolism ; Complement Factor H/metabolism ; Complement Pathway, Alternative/immunology ; Complement Pathway, Alternative/radiation effects ; Complement System Proteins/immunology ; Disease Susceptibility ; Female ; Humans ; Male ; Middle Aged ; Properdin/immunology ; Properdin/metabolism ; Protoporphyria, Erythropoietic/diagnosis ; Protoporphyria, Erythropoietic/etiology ; Protoporphyria, Erythropoietic/metabolism ; Seasons ; Sunlight/adverse effects
Chemical Substances	Biomarkers ; Complement C5 ; Properdin (11016-39-0) ; Complement Factor H (80295-65-4) ; Complement System Proteins (9007-36-7)
Language	English
Publishing date	2021-02-16
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2021.615620
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Article ; Online: Advances in understanding the pathogenesis of congenital erythropoietic porphyria.

Di Pierro, Elena / Brancaleoni, Valentina / Granata, Francesca

British journal of haematology

2016 Volume 173, Issue 3, Page(s) 365–379

Abstract: Congenital erythropoietic porphyria (CEP) is a rare genetic disease resulting from the remarkable deficient activity of uroporphyrinogen III synthase, the fourth enzyme of the haem biosynthetic pathway. This enzyme defect results in overproduction of the ...

Abstract	Congenital erythropoietic porphyria (CEP) is a rare genetic disease resulting from the remarkable deficient activity of uroporphyrinogen III synthase, the fourth enzyme of the haem biosynthetic pathway. This enzyme defect results in overproduction of the non-physiological and pathogenic porphyrin isomers, uroporphyrin I and coproporphyrin I. The predominant clinical characteristics of CEP include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. The severity of clinical manifestations is markedly heterogeneous among patients; and interdependence between disease severity and porphyrin amount in the tissues has been pointed out. A more pronounced endogenous production of porphyrins concomitant to activation of ALAS2, the first and rate-limiting of the haem synthesis enzymes in erythroid cells, has also been reported. CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out.
MeSH term(s)	GATA1 Transcription Factor/genetics ; Heme/biosynthesis ; Humans ; Mutation ; Phenotype ; Porphyria, Erythropoietic/etiology ; Porphyria, Erythropoietic/genetics ; Porphyria, Erythropoietic/metabolism ; Porphyria, Erythropoietic/pathology ; Porphyrins/biosynthesis ; Porphyrins/metabolism ; Uroporphyrinogen III Synthetase
Chemical Substances	GATA1 Transcription Factor ; GATA1 protein, human ; Porphyrins ; Heme (42VZT0U6YR) ; Uroporphyrinogen III Synthetase (EC 4.2.1.75)
Language	English
Publishing date	2016-05
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.13978
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Article: RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell, Danya J / Merens, Hope E / Fiorini, Claudia / Caulier, Alexis / Ulirsch, Jacob C / Ietswaart, Robert / Choquet, Karine / Graziadei, Giovanna / Brancaleoni, Valentina / Cappellini, Maria Domenica / Scott, Caroline / Roberts, Nigel / Proven, Melanie / Roy, Noémi Ba / Babbs, Christian / Higgs, Douglas R / Sankaran, Vijay G / Churchman, L Stirling

medRxiv : the preprint server for health sciences

2023

Abstract: The controlled release of promoter-proximal paused RNA polymerase II (Pol II) into productive elongation is a major step in gene regulation. However, functional analysis of Pol II pausing is difficult because factors that regulate pause release are ... ...

Abstract	The controlled release of promoter-proximal paused RNA polymerase II (Pol II) into productive elongation is a major step in gene regulation. However, functional analysis of Pol II pausing is difficult because factors that regulate pause release are almost all essential. In this study, we identified heterozygous loss-of-function mutations in
Language	English
Publishing date	2023-03-07
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.03.03.23286760
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Article ; Online: RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.

Martell, Danya J / Merens, Hope E / Caulier, Alexis / Fiorini, Claudia / Ulirsch, Jacob C / Ietswaart, Robert / Choquet, Karine / Graziadei, Giovanna / Brancaleoni, Valentina / Cappellini, Maria Domenica / Scott, Caroline / Roberts, Nigel / Proven, Melanie / Roy, Noémi B A / Babbs, Christian / Higgs, Douglas R / Sankaran, Vijay G / Churchman, L Stirling

Developmental cell

2023 Volume 58, Issue 20, Page(s) 2112–2127.e4

Abstract: Controlled release of promoter-proximal paused RNA polymerase II (RNA Pol II) is crucial for gene regulation. However, studying RNA Pol II pausing is challenging, as pause-release factors are almost all essential. In this study, we identified ... ...

Abstract	Controlled release of promoter-proximal paused RNA polymerase II (RNA Pol II) is crucial for gene regulation. However, studying RNA Pol II pausing is challenging, as pause-release factors are almost all essential. In this study, we identified heterozygous loss-of-function mutations in SUPT5H, which encodes SPT5, in individuals with β-thalassemia. During erythropoiesis in healthy human cells, cell cycle genes were highly paused as cells transition from progenitors to precursors. When the pathogenic mutations were recapitulated by SUPT5H editing, RNA Pol II pause release was globally disrupted, and as cells began transitioning from progenitors to precursors, differentiation was delayed, accompanied by a transient lag in erythroid-specific gene expression and cell cycle kinetics. Despite this delay, cells terminally differentiate, and cell cycle phase distributions normalize. Therefore, hindering pause release perturbs proliferation and differentiation dynamics at a key transition during erythropoiesis, identifying a role for RNA Pol II pausing in temporally coordinating the cell cycle and erythroid differentiation.
MeSH term(s)	Humans ; RNA Polymerase II/genetics ; RNA Polymerase II/metabolism ; Gene Expression Regulation ; Cell Differentiation ; Cell Cycle ; Transcription, Genetic ; Nuclear Proteins/metabolism ; Transcriptional Elongation Factors/genetics
Chemical Substances	RNA Polymerase II (EC 2.7.7.-) ; SUPT5H protein, human ; Nuclear Proteins ; Transcriptional Elongation Factors
Language	English
Publishing date	2023-08-15
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2054967-2
ISSN	1878-1551 ; 1534-5807
ISSN (online)	1878-1551
ISSN	1534-5807
DOI	10.1016/j.devcel.2023.07.018
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Article: Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients.

Granata, Francesca / Brancaleoni, Valentina / Barman-Aksözen, Jasmin / Scopetti, Margherita / De Luca, Giacomo / Fustinoni, Silvia / Motta, Irene / Di Pierro, Elena / Graziadei, Giovanna

Frontiers in physiology

2022 Volume 13, Page(s) 886194

Abstract: Background: ...

Abstract	Background:
Language	English
Publishing date	2022-07-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2022.886194
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Article ; Online: Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).

Brancaleoni, Valentina / Granata, Francesca / Missineo, Pasquale / Fustinoni, Silvia / Graziadei, Giovanna / Di Pierro, Elena

Molecular genetics and metabolism

2018 Volume 124, Issue 4, Page(s) 287–296

Abstract: Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the ... ...

Abstract	Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. The latter is able to increase the physiological quota of alternative splicing events in the intron 3. Other two variants in the FECH gene (c.1-252A > G and c.68-23C > T) have been found to be associated to the intron 3 variant in some populations and together, they constitute a haplotype (ACT/GTC), but eventually, their role in the alternative splicing event has never been elucidated. The absolute number of the aberrantly spliced FECH mRNA molecules and the absolute expression of the FECH gene were evaluated by digital PCR technique in a comprehensive cohort. The number of splicing events that rose in the presence of the c.315-48 T > C variant, both in the heterozygous and homozygous condition was reported for the first time. Also, the percentage of the inserted FECH mRNA increased, even doubled in the T/C cases, compared to T/T cases. The constant presence of variants in the promoter and intron 2 did not influence or modulate the aberrant splicing. The results of FECH gene expression suggested that the homozygosity for the c.315-48 T > C variant could be considered pathological. Thus, this study identified the homozygotes for the c.315-48 T > C variant as pathological. By extension, when the samples were categorised according to the haplotypes, the GTC haplotype in homozygosis was pathological.
MeSH term(s)	Alternative Splicing/genetics ; Female ; Ferrochelatase/genetics ; Genetic Predisposition to Disease ; Haplotypes/genetics ; Heterozygote ; Homozygote ; Humans ; Male ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Protoporphyria, Erythropoietic/enzymology ; Protoporphyria, Erythropoietic/genetics ; Protoporphyria, Erythropoietic/pathology
Chemical Substances	Ferrochelatase (EC 4.99.1.1)
Language	English
Publishing date	2018-06-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1418518-0
ISSN	1096-7206 ; 1096-7192
ISSN (online)	1096-7206
ISSN	1096-7192
DOI	10.1016/j.ymgme.2018.06.005
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Article: Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Fermo, Elisa / Vercellati, Cristina / Marcello, Anna Paola / Keskin, Ebru Yilmaz / Perrotta, Silverio / Zaninoni, Anna / Brancaleoni, Valentina / Zanella, Alberto / Giannotta, Juri A / Barcellini, Wilma / Bianchi, Paola

Frontiers in physiology

2021 Volume 12, Page(s) 684569

Abstract: Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production. The pathophysiology of these diseases, in particular the rarest, is often poorly ... ...

Abstract	Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production. The pathophysiology of these diseases, in particular the rarest, is often poorly understood, and easy-to-apply tools for diagnosis, clinical management, and patient stratification are still lacking. We report the 3-years monocentric experience with a 43 genes targeted Next Generation Sequencing (t-NGS) panel in diagnosis of CHAs; 122 patients from 105 unrelated families were investigated and the results compared with conventional laboratory pathway. Patients were divided in two groups: 1) cases diagnosed with hematologic investigations to be confirmed at molecular level, and 2) patients with unexplained anemia after extensive hematologic investigation. The overall sensitivity of t-NGS was 74 and 35% for families of groups 1 and 2, respectively. Inside this cohort of patients we identified 26 new pathogenic variants confirmed by functional evidence. The implementation of laboratory work-up with t-NGS increased the number of diagnoses in cases with unexplained anemia; cytoskeleton defects are well detected by conventional tools, deserving t-NGS to atypical cases; the diagnosis of Gardos channelopathy, some enzyme deficiencies, familial siterosterolemia, X-linked defects in females and other rare and ultra-rare diseases definitely benefits of t-NGS approaches.
Language	English
Publishing date	2021-05-21
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2021.684569
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