Oregon Stem Cell Center, Oregon Health and Science University, Portland, Oregon 97203, USA.
Mol Ther. 2012 Oct;20(10):1981-7. doi: 10.1038/mt.2012.154. Epub 2012 Aug 7.
Genetic fumarylacetoacetate hydrolase (Fah) deficiency is unique in that healthy gene-corrected hepatocytes have a strong growth advantage and can repopulate the diseased liver. Unfortunately, similar positive selection of gene-corrected cells is absent in most inborn errors of liver metabolism and it is difficult to reach the cell replacement index required for therapeutic benefit. Therefore, methods to transiently create a growth advantage for genetically modified hepatocytes in any genetic background would be advantageous. To mimic the selective pressure of Fah deficiency in normal animals, an efficient in vivo small molecule inhibitor of FAH, 4-[(2-carboxyethyl)-hydroxyphosphinyl]-3-oxobutyrate (CEHPOBA) was developed. Microarray analysis demonstrated that pharmacological inhibition of FAH produced highly similar gene expression changes to genetic deficiency. As proof of principle, hepatocytes lacking homogentisic acid dioxygenase (Hgd) and hence resistant to FAH inhibition were transplanted into sex-mismatched wild-type recipients. Time course analyses of 4-6 weeks of CEHPOBA administration after transplantation showed a linear relationship between treatment length and replacement index. Compared to controls, recipients treated with the FAH-inhibitor had 20-100-fold increases in liver repopulation. We conclude that pharmacological inhibition of FAH is a promising approach to in vivo selection of hepatocytes.
遗传性琥珀酸酰乙酰乙酸水解酶 (Fah) 缺乏症的独特之处在于,健康的基因校正肝细胞具有很强的生长优势,可以重新填充患病的肝脏。不幸的是,大多数先天性肝脏代谢错误中不存在基因校正细胞的类似正向选择,而且很难达到治疗获益所需的细胞替代指数。因此,在任何遗传背景下暂时为基因修饰的肝细胞创造生长优势的方法将是有利的。为了模拟正常动物中 Fah 缺乏的选择压力,开发了一种有效的 Fah 体内小分子抑制剂 4-[(2-羧乙基)-羟基膦酰基]-3-氧代丁酸 (CEHPOBA)。微阵列分析表明,FAH 的药理学抑制产生了与遗传缺陷非常相似的基因表达变化。作为原理的证明,缺乏对羟基苯丙酮酸双加氧酶 (Hgd) 且因此对 Fah 抑制具有抗性的肝细胞被移植到性别不匹配的野生型受体中。移植后 CEHPOBA 给药 4-6 周的时间过程分析显示,治疗时间与替代指数之间存在线性关系。与对照组相比,用 Fah 抑制剂治疗的受体的肝再定植增加了 20-100 倍。我们得出结论,FAH 的药理学抑制是体内选择肝细胞的一种很有前途的方法。