Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine

Pospı́šilová, Dagmar; Čmejlová, Jana; Hak, Jiří; Adam, Tomáš; Čmejla, Radek

doi:10.3324/haematol.11498

Cited by 80 publications

(81 citation statements)

References 7 publications

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“…38 A DBA patient with severe transfusion-dependent anemia received a trial of leucine with subsequent improvement in her hemoglobin levels and reticulocyte count free of transfusion support. 41 Leucine also ameliorated the anemia and reduced p53 levels in a murine Rps19 model of DBA. 42 Leucine treatment improved erythroid differentiation in zebrafish rps19 and rps14 morpholino knockdown models 43 and in human CD34 1 cells wherein RPS19 or RPS14 had been knocked down.…”

Section: Mtor Signalingmentioning

confidence: 99%

Marrow failure: a window into ribosome biology

Ruggero

Shimamura

2014

Blood

101

107

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Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marrow failure, congenital anomalies, and cancer predisposition. Genetic and molecular studies have uncovered distinct abnormalities in ribosome biogenesis underlying each of these 3 disorders. How defects in ribosomes, the essential organelles required for protein biosynthesis in all cells, cause tissue-specific abnormalities in human disease remains a question of fundamental scientific and medical importance. Here we review the overlapping and distinct clinical features of these 3 syndromes and discuss current knowledge regarding the ribosomal pathways disrupted in each of these disorders. We also explore the increasing complexity of ribosome biology and how this informs our understanding of developmental biology and human disease.

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Section: Mtor Signalingmentioning

confidence: 99%

Marrow failure: a window into ribosome biology

Ruggero

Shimamura

2014

Blood

101

107

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“…A patient with DiamondBlackfan anemia (DBA) showed a marked improvement in anemia and became transfusion-independent following L-leucine therapy. 10 Indeed, the addition of L-leucine to cultured lymphocytes obtained from patients with DBA was shown to result in an increase in translational efficiency. 11 Recently, DBA and del(5q) MDS have been modeled in zebrafish using antisense morpholinos to knockdown rps19 and rps14, respectively.…”

mentioning

confidence: 99%

Activation of the mTOR signaling pathway by L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts

et al. 2013

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“…A patient with DBA was reported to become transfusion-independent following L-leucine therapy. 10 The addition of L-leucine to cultured lymphocytes obtained from some patients with DBA, resulted in an increase in translational efficiency. 9 More recently, it has been reported that the treatment of RPS14-deficient or RPS19-deficient zebrafish embryos and RPS19-deficient mice with L-leucine resulted in a partial reversal of the anemia.…”

mentioning

confidence: 99%