Children's Medical Center, Peking University First Hospital, Beijing 100034, China.
College of Chemistry and Molecular Engineering, Peking University, Beijing 100871, China.
Acta Biochim Biophys Sin (Shanghai). 2024 Jul 30;56(8):1234-1243. doi: 10.3724/abbs.2024128.
Glycosylphosphatidylinositol (GPI) is a highly conserved post-translational modification in eukaryotes, which is essential for anchoring various proteins to the cell surface. Dysfunction of GPI biogenesis leads to human diseases, such as inherited GPI deficiency (IGD) caused by germline mutations in GPI-related genes. With accumulating reports on individuals with IGD, there has been increasing interest and studies on disease mechanism, diagnosis, and therapy. This review outlines the biosynthetic pathway of GPI-anchored proteins (GPI-APs) and summarizes clinical IGD cases from a molecular perspective. We also review current diagnostic and therapeutic approaches for IGD. Finally, we discuss future research directions to facilitate the understanding and treatment of GPI-related disorders.
糖基磷脂酰肌醇（GPI）是真核生物中高度保守的翻译后修饰，对于各种蛋白质锚定在细胞表面是必需的。GPI 生物发生功能障碍导致人类疾病，例如种系基因突变导致的遗传性 GPI 缺乏症（IGD）。随着越来越多关于 IGD 个体的报道，人们对疾病机制、诊断和治疗的兴趣和研究也在不断增加。本综述概述了 GPI 锚定蛋白（GPI-AP）的生物合成途径，并从分子角度总结了临床 IGD 病例。我们还综述了 IGD 的当前诊断和治疗方法。最后，我们讨论了未来的研究方向，以促进对 GPI 相关疾病的理解和治疗。
