Bst1, also known as bone marrow stromal cell antigen 1 or CD157, is a cell surface molecule with various enzymatic activities. It plays a role in multiple biological processes such as regulating nicotinamide riboside metabolism. Orally administered nicotinamide riboside (NR) increases NAD+ levels via two pathways, and BST1 hydrolyzes NR to nicotinamide in the late phase, and further contributes to NAD+ generation through the Preiss-Handler pathway. It also has base-exchange activity connecting amidated and deamidated pathways [1].

In terms of disease-related findings, Bst1-deficient (Bst1-/-) mice are protected against renal bilateral ischemia-reperfusion injury (IRI), indicating that Bst1 expression in neutrophils, especially hematopoietic cells, contributes to renal IRI [5]. In addition, BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in Parkinson's disease (PD) patients, and rare coding variants in BST1 are associated with REM sleep behavior disorder. Also, rs4273468 polymorphism of BST1 gene increases the risk of idiopathic restless legs syndrome in the southeastern Chinese population [2,3,4].

In conclusion, Bst1 is involved in important metabolic and disease-related processes. Gene-knockout mouse models have revealed its role in acute kidney injury, and its polymorphisms are associated with movement disorders such as Parkinson's disease, REM sleep behavior disorder, and restless legs syndrome. These findings contribute to understanding the disease mechanisms related to Bst1 and may provide potential therapeutic targets.

References:

1. Yaku, Keisuke, Palikhe, Sailesh, Izumi, Hironori, Mori, Hisashi, Nakagawa, Takashi. 2021. BST1 regulates nicotinamide riboside metabolism via its glycohydrolase and base-exchange activities. In Nature communications, 12, 6767. doi:10.1038/s41467-021-27080-3. https://pubmed.ncbi.nlm.nih.gov/34799586/

2. Shen, Yu-Ting, Wang, Jian-Wei, Wang, Min, Zhang, Hui, Zhang, Ke-Zhong. 2019. BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson's disease. In CNS neuroscience & therapeutics, 25, 422-429. doi:10.1111/cns.13099. https://pubmed.ncbi.nlm.nih.gov/30676692/

3. Mufti, Kheireddin, Yu, Eric, Rudakou, Uladzislau, Postuma, Ronald B, Gan-Or, Ziv. 2021. Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder. In Neurology, 96, e1402-e1412. doi:10.1212/WNL.0000000000011464. https://pubmed.ncbi.nlm.nih.gov/33397775/

4. Huang, Yumeng, Wang, Pei, Luo, Qi, Ma, Jianfang. 2021. Association of BST1 polymorphism with idiopathic restless legs syndrome in Chinese population. In Sleep & breathing = Schlaf & Atmung, 25, 1987-1993. doi:10.1007/s11325-021-02326-y. https://pubmed.ncbi.nlm.nih.gov/33625657/

5. Inoue, Tsuyoshi, Umene, Ryusuke, Sung, Sun-Sang J, Ishihara, Katsuhiko, Okusa, Mark D. 2023. Bone marrow stromal cell antigen-1 deficiency protects from acute kidney injury. In American journal of physiology. Renal physiology, 326, F167-F177. doi:10.1152/ajprenal.00175.2023. https://pubmed.ncbi.nlm.nih.gov/37969103/