Emerging Therapeutic Approaches for Diamond Blackfan Anemia

被引：10

作者：

Aspesi, Anna ^{[1
]}

Borsotti, Chiara ^{[1
]}

Follenzi, Antonia ^{[1
]}

机构：

[1] Univ Eastern Piedmont Amedeo Avogadro, Dept Hlth Sci, Novara, Italy

来源：

CURRENT GENE THERAPY | 2018年 / 18卷 / 06期

基金：

欧洲研究理事会;

关键词：

Bone marrow failure syndrome; diamond blackfan anemia; gene editing; gene therapy; ribosomal protein; ribosomopathy; STEM-CELL TRANSPLANTATION; BONE-MARROW FAILURE; RIBOSOMAL-PROTEIN S19; GENE-THERAPY; LENTIVIRAL VECTORS; MOUSE MODEL; ERYTHROID DEVELOPMENT; RNA; MUTATIONS; DIFFERENTIATION;

D O I：

10.2174/1566523218666181109124538

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Diamond Blackfan Anemia (DBA) is an inherited erythroid aplasia with onset in childhood. Patients carry heterozygous mutations in one of 19 Ribosomal Protein (RP) genes, that lead to defective ribosome biogenesis and function. Standard treatments include steroids or blood transfusions but the only definitive cure is allogeneic Hematopoietic Stem Cell Transplantation (HSCT). Although advances in HSCT have greatly improved the success rate over the last years, the risk of adverse events and mortality is still significant. Clinical trials employing gene therapy are now in progress for a variety of monogenic diseases and the development of innovative stem cell-based strategies may open new alternatives for DBA treatment as well. In this review, we summarize the most recent progress toward the implementation of new therapeutic approaches for this disorder. We present different DNA- and RNA-based technologies as well as new candidate pharmacological treatments and discuss their relevance and potential applicability for the cure of DBA.

引用

页码：327 / 335

页数：9

共 102 条

[1] Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis [J].

Adams, D. ;

Gonzalez-Duarte, A. ;

O'Riordan, W. D. ;

Yang, C. -C. ;

Ueda, M. ;

Kristen, A. V. ;

Tournev, I. ;

Schmidt, H. H. ;

Coelho, T. ;

Berk, J. L. ;

Lin, K. -P. ;

Vita, G. ;

Attarian, S. ;

Plante-Bordeneuve, V. ;

Mezei, M. M. ;

Campistol, J. M. ;

Buades, J. ;

Brannagan, T. H., III ;

Kim, B. J. ;

Oh, J. ;

Parman, Y. ;

Sekijima, Y. ;

Hawkins, P. N. ;

Solomon, S. D. ;

Polydefkis, M. ;

Dyck, P. J. ;

Gandhi, P. J. ;

Goyal, S. ;

Chen, J. ;

Strahs, A. L. ;

Nochur, S. V. ;

Sweetser, M. T. ;

Garg, P. P. ;

Vaishnaw, A. K. ;

Gollob, J. A. ;

Suhr, O. B. .

NEW ENGLAND JOURNAL OF MEDICINE, 2018, 379 (01) :11-21

[2] Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products [J].

Aiuti, Alessandro ;

Roncarolo, Maria Grazia ;

Naldini, Luigi .

EMBO MOLECULAR MEDICINE, 2017, 9 (06) :737-740

[3] Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome [J].

Aiuti, Alessandro ;

Biasco, Luca ;

Scaramuzza, Samantha ;

Ferrua, Francesca ;

Cicalese, Maria Pia ;

Baricordi, Cristina ;

Dionisio, Francesca ;

Calabria, Andrea ;

Giannelli, Stefania ;

Castiello, Maria Carmina ;

Bosticardo, Marita ;

Evangelio, Costanza ;

Assanelli, Andrea ;

Casiraghi, Miriam ;

Di Nunzio, Sara ;

Callegaro, Luciano ;

Benati, Claudia ;

Rizzardi, Paolo ;

Pellin, Danilo ;

Di Serio, Clelia ;

Schmidt, Manfred ;

Von Kalle, Christof ;

Gardner, Jason ;

Mehta, Nalini ;

Neduva, Victor ;

Dow, David J. ;

Galy, Anne ;

Miniero, Roberto ;

Finocchi, Andrea ;

Metin, Ayse ;

Banerjee, Pinaki P. ;

Orange, Jordan S. ;

Galimberti, Stefania ;

Valsecchi, Maria Grazia ;

Biffi, Alessandra ;

Montini, Eugenio ;

Villa, Anna ;

Ciceri, Fabio ;

Roncarolo, Maria Grazia ;

Naldini, Luigi .

SCIENCE, 2013, 341 (6148) :865-U71

[4] A possible turning point in the hematopoietic stem cell gene therapy for primary immunodeficiency diseases? Lentiviral vectors could take the place of retroviral vectors [J].

Ariga, Tadashi .

EXPERT REVIEW OF CLINICAL IMMUNOLOGY, 2013, 9 (11) :1015-1018

[5] Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy [J].

Aspesi, Anna ;

Monteleone, Valentina ;

Betti, Marta ;

Actis, Chiara ;

Morleo, Giulia ;

Sculco, Marika ;

Guarrera, Simonetta ;

Wlodarski, Marcin W. ;

Ramenghi, Ugo ;

Santoro, Claudio ;

Ellis, Steven R. ;

Loreni, Fabrizio ;

Follenzi, Antonia ;

Dianzani, Irma .

SCIENTIFIC REPORTS, 2017, 7

[6] Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia [J].

Aspesi, Anna ;

Pavesi, Elisa ;

Robotti, Elisa ;

Crescitelli, Rossella ;

Boria, Ilenia ;

Avondo, Federica ;

Moniz, Helene ;

Da Costa, Lydie ;

Mohandas, Narla ;

Roncaglia, Paola ;

Ramenghi, Ugo ;

Ronchi, Antonella ;

Gustincich, Stefano ;

Merlin, Simone ;

Marengo, Emilio ;

Ellis, Steven R. ;

Follenzi, Antonia ;

Santoro, Claudio ;

Dianzani, Irma .

GENE, 2014, 545 (02) :282-289

[7] Successful use of reduced-intensity conditioning and matched-unrelated hematopoietic stem cell transplant in a child with Diamond-Blackfan anemia and cirrhosis [J].

Asquith, Justin M. ;

Copacia, Jessica ;

Mogul, Mark J. ;

Bajwa, Rajinder P. S. .

PEDIATRIC TRANSPLANTATION, 2015, 19 (06) :E157-E159

[8] Successful transplantation of CD34+ selected peripheral blood stem cells from an unrelated donor in an adult patient with Diamond-Blackfan anemia and secondary hemochromatosis [J].

Berndt, A ;

Helwig, A ;

Ehninger, G ;

Bornhäuser, M .

BONE MARROW TRANSPLANTATION, 2005, 35 (01) :99-100

[9] Analyzing the Genotoxicity of Retroviral Vectors in Hematopoietic Cell Gene Therapy [J].

Biasco, Luca ;

Rothe, Michael ;

Buening, Hildegard ;

Schambach, Axel .

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT, 2018, 8 :21-30

[10] Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy [J].

Biffi, Alessandra ;

Montini, Eugenio ;

Lorioli, Laura ;

Cesani, Martina ;

Fumagalli, Francesca ;

Plati, Tiziana ;

Baldoli, Cristina ;

Martino, Sabata ;

Calabria, Andrea ;

Canale, Sabrina ;

Benedicenti, Fabrizio ;

Vallanti, Giuliana ;

Biasco, Luca ;

Leo, Simone ;

Kabbara, Nabil ;

Zanetti, Gianluigi ;

Rizzo, William B. ;

Mehta, Nalini A. L. ;

Cicalese, Maria Pia ;

Casiraghi, Miriam ;

Boelens, Jaap J. ;

Del Carro, Ubaldo ;

Dow, David J. ;

Schmidt, Manfred ;

Assanelli, Andrea ;

Neduva, Victor ;

Di Serio, Clelia ;

Stupka, Elia ;

Gardner, Jason ;

von Kalle, Christof ;

Bordignon, Claudio ;

Ciceri, Fabio ;

Rovelli, Attilio ;

Roncarolo, Maria Grazia ;

Aiuti, Alessandro ;

Sessa, Maria ;

Naldini, Luigi .

SCIENCE, 2013, 341 (6148) :864-U58

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