Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.
Hamaguchi, Isao LU ; Ooka, Andreas LU ; Brun, Ann LU ; Richter, Johan LU ; Dahl, Niklas and Karlsson, Stefan LU
(2002)
In Blood
100(8).
p.2724-2731
- Abstract
- Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors. Forty percent of the patients are blood transfusion-dependent. Recent reports show that the ribosomal protein S19 (RPS19) gene is mutated in 25% of all patients with DBA. We constructed oncoretroviral vectors containing the RPS19 gene to develop gene therapy for RPS19-deficient DBA. These vectors were used to introduce the RPS19 gene into CD34(+) bone marrow (BM) cells from 4 patients with DBA with RPS19 gene mutations. Overexpression of the RPS19 transgene increased the number of erythroid colonies by almost 3-fold. High expression levels of the RPS19 transgene improved erythroid colony-forming... (More)
- Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors. Forty percent of the patients are blood transfusion-dependent. Recent reports show that the ribosomal protein S19 (RPS19) gene is mutated in 25% of all patients with DBA. We constructed oncoretroviral vectors containing the RPS19 gene to develop gene therapy for RPS19-deficient DBA. These vectors were used to introduce the RPS19 gene into CD34(+) bone marrow (BM) cells from 4 patients with DBA with RPS19 gene mutations. Overexpression of the RPS19 transgene increased the number of erythroid colonies by almost 3-fold. High expression levels of the RPS19 transgene improved erythroid colony-forming ability substantially whereas low expression levels had no effect. Overexpression of RPS19 had no detrimental effect on granulocyte-macrophage colony formation. Therefore, these findings suggest that gene therapy for RPS19-deficient patients with DBA using viral vectors that express the RPS19 gene is feasible. (Blood. 2002;100:2724-2731) (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/110162
- author
- Hamaguchi, Isao
LU
; Ooka, Andreas
LU
; Brun, Ann
LU
; Richter, Johan
LU
; Dahl, Niklas
and Karlsson, Stefan
LU
- organization
- publishing date
- 2002
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Blood
- volume
- 100
- issue
- 8
- pages
- 2724 - 2731
- publisher
- American Society of Hematology
- external identifiers
-
- wos:000178519100011
- pmid:12351378
- scopus:0037108191
- ISSN
- 1528-0020
- language
- English
- LU publication?
- yes
- id
- 7196586b-edde-4bbf-b241-d39b2fcb3391 (old id 110162)
- alternative location
- http://bloodjournal.hematologylibrary.org/cgi/content/full/100/8/2724
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12351378&dopt=Abstract
- date added to LUP
- 2016-04-01 12:07:04
- date last changed
- 2025-10-14 10:33:46
@article{7196586b-edde-4bbf-b241-d39b2fcb3391,
abstract = {{Diamond-Blackfan anemia (DBA) is a congenital bone marrow failure syndrome characterized by a specific deficiency in erythroid progenitors. Forty percent of the patients are blood transfusion-dependent. Recent reports show that the ribosomal protein S19 (RPS19) gene is mutated in 25% of all patients with DBA. We constructed oncoretroviral vectors containing the RPS19 gene to develop gene therapy for RPS19-deficient DBA. These vectors were used to introduce the RPS19 gene into CD34(+) bone marrow (BM) cells from 4 patients with DBA with RPS19 gene mutations. Overexpression of the RPS19 transgene increased the number of erythroid colonies by almost 3-fold. High expression levels of the RPS19 transgene improved erythroid colony-forming ability substantially whereas low expression levels had no effect. Overexpression of RPS19 had no detrimental effect on granulocyte-macrophage colony formation. Therefore, these findings suggest that gene therapy for RPS19-deficient patients with DBA using viral vectors that express the RPS19 gene is feasible. (Blood. 2002;100:2724-2731)}},
author = {{Hamaguchi, Isao and Ooka, Andreas and Brun, Ann and Richter, Johan and Dahl, Niklas and Karlsson, Stefan}},
issn = {{1528-0020}},
language = {{eng}},
number = {{8}},
pages = {{2724--2731}},
publisher = {{American Society of Hematology}},
series = {{Blood}},
title = {{Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.}},
url = {{http://bloodjournal.hematologylibrary.org/cgi/content/full/100/8/2724}},
volume = {{100}},
year = {{2002}},
}