PMF1, also known as polyamine modulated factor-1, is involved in polyamine homeostasis, which is important for cell growth and death regulation. It may also be associated with various biological processes related to diseases [1].

In bladder cancer, PMF1 hypermethylation is associated with gene expression loss, increasing tumor stage, and cytoplasmic PMF1 expression loss. Its methylation in urinary specimens can distinguish bladder cancer patients from controls, suggesting its potential for clinical management [1]. In a Chinese population, the rs2984613 polymorphism in PMF1 was significantly associated with leukoaraiosis, with a protective effect, indicating its possible involvement in white matter lesions [2]. In non-lobar intracerebral hemorrhage, PMF1 overexpression could be causally related to the risk, potentially due to altered promoter-enhancer interactions dysregulating polyamine catabolism [3].

In summary, PMF1 plays a role in polyamine homeostasis and is associated with diseases such as bladder cancer, leukoaraiosis, and non-lobar intracerebral hemorrhage. Studies on PMF1 contribute to understanding disease mechanisms and may offer new targets for disease prevention and management.

References:

1. Aleman, Ainel, Cebrian, Virginia, Alvarez, Miguel, Esteller, Manel, Sánchez-Carbayo, Marta. . Identification of PMF1 methylation in association with bladder cancer progression. In Clinical cancer research : an official journal of the American Association for Cancer Research, 14, 8236-43. doi:10.1158/1078-0432.CCR-08-0778. https://pubmed.ncbi.nlm.nih.gov/19088041/

2. Huang, Wen-Qing, Ye, Hui-Ming, Cai, Liang-Liang, Tzeng, Chi-Meng, Lin, Qing. 2019. The Associations of PMF1, ICAM1, AGT, TRIM65, FBF1, and ACOX1 Variants With Leukoaraiosis in Chinese Population. In Frontiers in genetics, 10, 615. doi:10.3389/fgene.2019.00615. https://pubmed.ncbi.nlm.nih.gov/31396257/

3. Parodi, Livia, Comeau, Mary E, Georgakis, Marios K, Langefeld, Carl D, Anderson, Christopher D. 2023. Deep Resequencing of the 1q22 Locus in Non-Lobar Intracerebral Hemorrhage. In Annals of neurology, 95, 325-337. doi:10.1002/ana.26814. https://pubmed.ncbi.nlm.nih.gov/37787451/