ETH Zurich, Department of Chemistry and Applied Biosciences, Institute of Pharmaceutical Sciences, Vladimir-Prelog-Weg 3, 8093, Zurich, Switzerland.
Sci Rep. 2020 Feb 27;10(1):3651. doi: 10.1038/s41598-020-60463-y.
Phenylketonuria is a genetic disorder affecting the metabolism of phenylalanine (phe) due to a deficiency in the enzyme phenylalanine hydroxylase. This disorder is characterized by an elevated phe blood level, which can lead to severe intellectual disabilities in newborns. The current strategy to prevent these devastating consequences is limited to a life-long phe-free diet, which implies major lifestyle changes and restrictions. Recently, an injectable enzyme replacement therapy, Pegvaliase, has been approved for treating phenylketonuria, but is associated with significant side-effects. In this study a phe-metabolizing system suitable for oral delivery is designed to overcome the need for daily injections. Active phenylalanine ammonia-lyase (PAL), an enzyme that catalyses phe metabolism, is loaded into mesoporous silica microparticles (MSP) with pore sizes ranging from 10 to 35 nm. The surface of the MSP is lined with a semipermeable barrier to allow permeation of phe while blocking digestive enzymes that degrade PAL. The enzymatic activity can be partially preserved in vitro by coating the MSP with poly(allylamine) and poly(acrylic acid)-bowman birk (protease inhibitor) conjugate. The carrier system presented herein may provide a general approach to overcome gastro-intestinal proteolytic digestion and to deliver active enzymes to the intestinal lumen for prolonged local action.
苯丙酮尿症是一种遗传性疾病,由于苯丙氨酸羟化酶缺乏,导致苯丙氨酸(phe)代谢异常。这种疾病的特征是血液中phe 水平升高,可导致新生儿严重智力障碍。目前预防这些灾难性后果的策略仅限于终身无 phe 饮食,这意味着生活方式的重大改变和限制。最近,一种可注射的酶替代疗法 Pegvaliase 已被批准用于治疗苯丙酮尿症,但与严重的副作用有关。在这项研究中,设计了一种适合口服给药的 phe 代谢系统,以克服每日注射的需求。将活性苯丙氨酸氨解酶(PAL),一种催化 phe 代谢的酶,装入孔径为 10 至 35nm 的介孔硅微球(MSP)中。MSP 的表面覆盖有半渗透屏障,允许 phe 渗透,同时阻止降解 PAL 的消化酶。通过用聚(烯丙胺)和聚(丙烯酸)-鲍曼伯克(蛋白酶抑制剂)缀合物涂覆 MSP,可部分保留体外的酶活性。本文提出的载体系统可能为克服胃肠蛋白水解消化并将活性酶递送到肠腔以实现长时间局部作用提供一种通用方法。