Boosalis Michael S, Sangerman Jose I, White Gary L, Wolf Roman F, Shen Ling, Dai Yan, White Emily, Makala Levi H, Li Biaoru, Pace Betty S, Nouraie Mehdi, Faller Douglas V, Perrine Susan P
Cancer Center and Hemoglobinopathy Thalassemia Research Unit, Boston University School of Medicine, Boston, Massachusetts, United States of America.
Department of Comparative Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States of America.
PLoS One. 2015 Dec 29;10(12):e0144660. doi: 10.1371/journal.pone.0144660. eCollection 2015.
High-level fetal (γ) globin expression ameliorates clinical severity of the beta (β) hemoglobinopathies, and safe, orally-bioavailable γ-globin inducing agents would benefit many patients. We adapted a LCR-γ-globin promoter-GFP reporter assay to a high-throughput robotic system to evaluate five diverse chemical libraries for this activity. Multiple structurally- and functionally-diverse compounds were identified which activate the γ-globin gene promoter at nanomolar concentrations, including some therapeutics approved for other conditions. Three candidates with established safety profiles were further evaluated in erythroid progenitors, anemic baboons and transgenic mice, with significant induction of γ-globin expression observed in vivo. A lead candidate, Benserazide, emerged which demonstrated > 20-fold induction of γ-globin mRNA expression in anemic baboons and increased F-cell proportions by 3.5-fold in transgenic mice. Benserazide has been used chronically to inhibit amino acid decarboxylase to enhance plasma levels of L-dopa. These studies confirm the utility of high-throughput screening and identify previously unrecognized fetal globin inducing candidates which can be developed expediently for treatment of hemoglobinopathies.
高水平胎儿(γ)珠蛋白表达可改善β血红蛋白病的临床严重程度,而安全的、口服生物可利用的γ珠蛋白诱导剂将使许多患者受益。我们将一种LCR-γ珠蛋白启动子-GFP报告基因检测方法应用于高通量机器人系统,以评估五个不同的化学文库的这种活性。鉴定出了多种结构和功能各异的化合物,它们在纳摩尔浓度下可激活γ珠蛋白基因启动子,其中包括一些已被批准用于其他病症的治疗药物。在红系祖细胞、贫血狒狒和转基因小鼠中对三种具有既定安全性的候选药物进行了进一步评估,在体内观察到γ珠蛋白表达有显著诱导。一种主要候选药物苄丝肼出现了,它在贫血狒狒中使γ珠蛋白mRNA表达诱导超过20倍,在转基因小鼠中使F细胞比例增加3.5倍。苄丝肼长期以来一直用于抑制氨基酸脱羧酶以提高左旋多巴的血浆水平。这些研究证实了高通量筛选的实用性,并鉴定出了以前未被认识的胎儿珠蛋白诱导候选药物,这些药物可迅速开发用于治疗血红蛋白病。