Serpinf1, also known as the gene encoding pigment epithelium-derived factor (PEDF), is a member of the serpin family. It lacks the serine protease inhibitory activity typical of many serpin proteins. PEDF has functions such as anti-tumor, anti-angiogenesis, anti-inflammation, nutrition and nerve protection, and it also participates in fat metabolism [2].

In glioma, a higher expression of Serpinf1 is correlated with a poor overall survival rate. Knocking down Serpinf1 can suppress the proliferation, invasion, and migration of glioma cells in vitro, and it impairs the sphere formation of glioma stem cells. Bioinformatics analysis reveals that Notch signaling activation is closely associated with high Serpinf1 expression, and STAT1, CREM, and NR2F2 may be involved in its transcriptional regulation [1]. In osteogenesis imperfecta (OI) type VI, Serpinf1 mutations lead to defects in matrix mineralization. For example, in a study of 18 Indian patients, ten variants in Serpinf1 were identified, and patients had progressive deforming OI [3].

In summary, Serpinf1 plays significant roles in tumor progression, as seen in glioma, and in bone-related disorders like OI type VI. The functional studies, such as knockdown experiments in glioma cells, help to understand its role in specific biological processes and disease conditions, providing potential directions for disease prognosis and treatment.

References:

1. Song, Lairong, Huo, Xulei, Li, Xiaojie, Wang, Liang, Wu, Zhen. 2023. SERPINF1 Mediates Tumor Progression and Stemness in Glioma. In Genes, 14, . doi:10.3390/genes14030580. https://pubmed.ncbi.nlm.nih.gov/36980858/

2. Zhang, Chao, Yang, Wei, Zhang, Shanshan, Li, Mian, Lu, Yanqin. . Pan-cancer analysis of osteogenesis imperfecta causing gene SERPINF1. In Intractable & rare diseases research, 11, 15-24. doi:10.5582/irdr.2021.01138. https://pubmed.ncbi.nlm.nih.gov/35261846/

3. Selina, Agnes, Kandagaddala, Madhavi, Kumar, Vignesh, Danda, Sumita, Madhuri, Vrisha. 2023. SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta - A study of 18 patients from India. In Bone reports, 18, 101690. doi:10.1016/j.bonr.2023.101690. https://pubmed.ncbi.nlm.nih.gov/37425194/