Arcturus Therapeutics, Inc, San Diego, CA, United States.
Arcturus Therapeutics, Inc, San Diego, CA, United States.
Int Rev Cell Mol Biol. 2022;372:159-174. doi: 10.1016/bs.ircmb.2022.04.008. Epub 2022 Jun 3.
Phenylketonuria (PKU) is a metabolic rare disease characterized by a failure of the body to clear out the high levels of Phenylalanine (Phe), leading to devastating neurological defects and growth retardation. PKU was discovered in 1934 by AsbjrØrn FØlling, and even though there have been continuous efforts from the scientific community to find therapeutic approaches to modulate the high levels of phenylalanine found in the body of the PKU patients, an efficient therapy still needs to be developed. Current standard of care includes low phenylalanine diets, but the strict restrictions for patients and families makes it very difficult to adequately being implemented. FDA has approved two drugs to help reduce Phe levels in PKU patients: an enzyme substitution therapy, Palynziq® (PEGylated recombinant phenylalanine ammonia lyase), and Kuvan®, a supplemental tetrahydrobiopterin (BH4) cofactor that enhances residual enzyme activity. Both treatments are restricted to certain PKU patients' population, and, therefore, there are still high unmet needs for most of the patients. The present review will focus on current advancements in lipid nanoparticles (LNP)-mRNA technologies and their potential in treating the root cause of PKU, a therapeutic approach that will be analyzed in the context of other promising therapeutic approaches that are been developed for PKU.
苯丙酮尿症(PKU)是一种代谢罕见病,其特征是身体无法清除高水平的苯丙氨酸(Phe),导致毁灭性的神经缺陷和生长迟缓。PKU 于 1934 年由 Asbjørn Følling 发现,尽管科学界一直在努力寻找治疗方法来调节 PKU 患者体内的高苯丙氨酸水平,但仍需要开发有效的治疗方法。目前的标准治疗包括低苯丙氨酸饮食,但对患者和家庭的严格限制使得难以充分实施。FDA 已批准两种药物来帮助降低 PKU 患者的 Phe 水平:酶替代疗法 Palynziq®(聚乙二醇化重组苯丙氨酸氨裂解酶)和 Kuvan®,一种补充四氢生物蝶呤(BH4)辅助因子,可增强残留酶活性。这两种治疗方法都仅限于某些 PKU 患者人群,因此,大多数患者仍存在高度未满足的需求。本综述将重点介绍脂质纳米颗粒(LNP)-mRNA 技术的最新进展及其在治疗 PKU 根本原因方面的潜力,这一治疗方法将结合其他正在为 PKU 开发的有前途的治疗方法进行分析。