Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia.

Pekka Jaako, Shubhranshu Debnath, Karin Olsson, David Bryder, Johan Flygare, Stefan Karlsson

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review


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.
Sidor (från-till)2225-2228
StatusPublished - 2012

Bibliografisk information

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)

Ämnesklassifikation (UKÄ)

  • Hematologi


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