Diamond-Blackfan anemia.
Abnormalities, Multiple
/ genetics
Adenosine Deaminase
/ blood
Anemia, Diamond-Blackfan
/ diagnosis
Child, Preschool
Congenital Abnormalities
/ genetics
Diagnosis, Differential
Disease Management
Drug Resistance
Erythrocytes
/ enzymology
Fetal Growth Retardation
/ etiology
GATA1 Transcription Factor
/ genetics
Genetic Heterogeneity
Genetic Therapy
Glucocorticoids
/ therapeutic use
HSP70 Heat-Shock Proteins
/ metabolism
Hematopoietic Stem Cell Transplantation
Humans
Infant
Infant, Newborn
Intercellular Signaling Peptides and Proteins
/ blood
Models, Biological
Mutation
Neoplastic Syndromes, Hereditary
/ genetics
Ribosomal Proteins
/ genetics
Tumor Suppressor Protein p53
/ physiology
Journal
Blood
ISSN: 1528-0020
Titre abrégé: Blood
Pays: United States
ID NLM: 7603509
Informations de publication
Date de publication:
10 09 2020
10 09 2020
Historique:
received:
15
10
2019
accepted:
30
12
2019
pubmed:
24
7
2020
medline:
25
3
2021
entrez:
24
7
2020
Statut:
ppublish
Résumé
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failure syndrome. Erythroblastopenia is the major characteristic of the disease, which is a model for ribosomal diseases, related to a heterozygous allelic variation in 1 of the 20 ribosomal protein genes of either the small or large ribosomal subunit. The salient feature of classical DBA is a defect in ribosomal RNA maturation that generates nucleolar stress, leading to stabilization of p53 and activation of its targets, resulting in cell-cycle arrest and apoptosis. Although activation of p53 may not explain all aspects of DBA erythroid tropism, involvement of GATA1/HSP70 and globin/heme imbalance, with an excess of the toxic free heme leading to reactive oxygen species production, account for defective erythropoiesis in DBA. Despite significant progress in defining the molecular basis of DBA and increased understanding of the mechanistic basis for DBA pathophysiology, progress in developing new therapeutic options has been limited. However, recent advances in gene therapy, better outcomes with stem cell transplantation, and discoveries of putative new drugs through systematic drug screening using large chemical libraries provide hope for improvement.
Identifiants
pubmed: 32702755
pii: S0006-4971(20)61722-0
doi: 10.1182/blood.2019000947
pmc: PMC7483438
doi:
Substances chimiques
GATA1 Transcription Factor
0
GATA1 protein, human
0
Glucocorticoids
0
HSP70 Heat-Shock Proteins
0
Intercellular Signaling Peptides and Proteins
0
Ribosomal Proteins
0
TP53 protein, human
0
Tumor Suppressor Protein p53
0
ADA2 protein, human
EC 3.5.4.4
Adenosine Deaminase
EC 3.5.4.4
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1262-1273Informations de copyright
© 2020 by The American Society of Hematology.
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