Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia.
(2012) In Blood 120(11). p.2225-2228- Abstract
- Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-deficient DBA. Administration of L-leucine significantly improved the anemia in Rps19-deficient mice (19 % improvement in hemoglobin concentration; 18% increase in the number of erythrocytes), increased the bone marrow cellularity and alleviated stress hematopoiesis. Furthermore, the therapeutic response to L-leucine appeared specific for... (More)
- Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-deficient DBA. Administration of L-leucine significantly improved the anemia in Rps19-deficient mice (19 % improvement in hemoglobin concentration; 18% increase in the number of erythrocytes), increased the bone marrow cellularity and alleviated stress hematopoiesis. Furthermore, the therapeutic response to L-leucine appeared specific for Rps19-deficient hematopoiesis and was associated with downregulation of p53 activity. Our study supports the rationale for clinical trials of L-leucine as a therapeutic agent for DBA. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2967180
- author
- Jaako, Pekka LU ; Debnath, Shubhranshu LU ; Olsson, Karin LU ; Bryder, David LU ; Flygare, Johan LU and Karlsson, Stefan LU
- organization
- publishing date
- 2012
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Blood
- volume
- 120
- issue
- 11
- pages
- 2225 - 2228
- publisher
- American Society of Hematology
- external identifiers
-
- wos:000309044200014
- pmid:22791294
- scopus:84866314916
- ISSN
- 1528-0020
- DOI
- 10.1182/blood-2012-05-431437
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Stem Cell Aging (013212073), Division of Molecular Medicine and Gene Therapy (013022010)
- id
- 358bfd23-4e01-461f-b0f9-4d3d0060a7fe (old id 2967180)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/22791294?dopt=Abstract
- date added to LUP
- 2016-04-04 07:07:54
- date last changed
- 2024-02-10 18:50:40
@article{358bfd23-4e01-461f-b0f9-4d3d0060a7fe, abstract = {{Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-deficient DBA. Administration of L-leucine significantly improved the anemia in Rps19-deficient mice (19 % improvement in hemoglobin concentration; 18% increase in the number of erythrocytes), increased the bone marrow cellularity and alleviated stress hematopoiesis. Furthermore, the therapeutic response to L-leucine appeared specific for Rps19-deficient hematopoiesis and was associated with downregulation of p53 activity. Our study supports the rationale for clinical trials of L-leucine as a therapeutic agent for DBA.}}, author = {{Jaako, Pekka and Debnath, Shubhranshu and Olsson, Karin and Bryder, David and Flygare, Johan and Karlsson, Stefan}}, issn = {{1528-0020}}, language = {{eng}}, number = {{11}}, pages = {{2225--2228}}, publisher = {{American Society of Hematology}}, series = {{Blood}}, title = {{Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia.}}, url = {{http://dx.doi.org/10.1182/blood-2012-05-431437}}, doi = {{10.1182/blood-2012-05-431437}}, volume = {{120}}, year = {{2012}}, }