Acta Biochimica et Biophysica Sinica (Jul 2024)

Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives

  • Li Shan,
  • Tang Qi,
  • Jiang Yuwu,
  • Chen Xing

DOI
https://doi.org/10.3724/abbs.2024128
Journal volume & issue
Vol. 56
pp. 1234 – 1243

Abstract

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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.

Keywords