Sybu-KO Mouse

Sybu, also known as syntabulin, is involved in multiple biological processes. It has been implicated in mitochondrial transport and docking in axons, which is crucial for normal neuronal physiology [4]. In addition, it plays a role in the aggregation of germ plasm and primordial germ cell specification in Xenopus [8].

Recent studies have associated Sybu with several disease conditions. In a multi-ancestry genome-wide association meta-analysis of Parkinson's disease, Sybu was identified as one of 12 potentially novel loci, suggesting its possible link to Parkinson's disease risk [1]. In the prodromal stage of Parkinson's disease, novel variations in Sybu were detected, indicating its potential as a genetic biomarker for early diagnosis [2]. In women with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization-embryo transfer, the expression of SYBU was significantly elevated in the pre-receptive endometrium compared to normal ovulation patients [3]. In lacrimal gland adenoid cystic carcinoma with high-grade transformation cells, the expression of SYBU was higher than in non-high-grade transformation cells, suggesting its role in the malignancy of these tumors [5]. A study on thymic epithelial tumors found that LINC00174 favors the expression of SYBU, impacting cell migration and lipid metabolism [6]. In a proteomic study of neurodegenerative diseases, the loss of SYBU was significantly associated with cognitive impairment and decline, indicating its potential as a predictive and discriminative molecular fingerprint [7]. Also, a genome-wide association study in Hispanics/Latinos detected an association at SYBU with the ankle brachial index [9].

In conclusion, Sybu is involved in important biological processes such as neuronal mitochondrial regulation, germ cell development, and is associated with various diseases including Parkinson's disease, PCOS, certain cancers, neurodegenerative diseases, and has a possible link to peripheral artery-related conditions. The findings from these studies contribute to understanding the role of Sybu in disease mechanisms, potentially providing new directions for diagnosis and treatment.

References:

1. Kim, Jonggeol Jeffrey, Vitale, Dan, Otani, Diego Véliz, Foo, Jia Nee, Mata, Ignacio. 2023. Multi-ancestry genome-wide association meta-analysis of Parkinson's disease. In Nature genetics, 56, 27-36. doi:10.1038/s41588-023-01584-8. https://pubmed.ncbi.nlm.nih.gov/38155330/

2. Badawy, Marwa T, Salama, Aya A, Salama, Mohamed. 2024. Novel Variants Linked to the Prodromal Stage of Parkinson's Disease (PD) Patients. In Diagnostics (Basel, Switzerland), 14, . doi:10.3390/diagnostics14090929. https://pubmed.ncbi.nlm.nih.gov/38732343/

3. Xu, Xiuhua, Yang, Aimin, Tian, Pengxiang, Huang, Xianghua, Hao, Gui-Min. 2024. Expression profile analysis of LncRNAs and mRNAs in pre-receptive endometrium of women with polycystic ovary syndrome undergoing in vitro fertilization-embryo transfer. In BMC medical genomics, 17, 26. doi:10.1186/s12920-024-01806-w. https://pubmed.ncbi.nlm.nih.gov/38243290/

4. Cai, Qian, Sheng, Zu-Hang. 2009. Mitochondrial transport and docking in axons. In Experimental neurology, 218, 257-67. doi:10.1016/j.expneurol.2009.03.024. https://pubmed.ncbi.nlm.nih.gov/19341731/

5. Zhang, Chuan-Li, Zhu, Li-Min, Liu, Xun, Lin, Ting-Ting, He, Yan-Jin. 2023. Comparison of biological behavior of lacrimal gland adenoid cystic carcinoma with high-grade transformation cells. In International journal of ophthalmology, 16, 163-171. doi:10.18240/ijo.2023.02.01. https://pubmed.ncbi.nlm.nih.gov/36816203/

6. Tito, Claudia, Ganci, Federica, Sacconi, Andrea, Blandino, Giovanni, Fazi, Francesco. 2020. LINC00174 is a novel prognostic factor in thymic epithelial tumors involved in cell migration and lipid metabolism. In Cell death & disease, 11, 959. doi:10.1038/s41419-020-03171-9. https://pubmed.ncbi.nlm.nih.gov/33161413/

7. Bereczki, Erika, Branca, Rui M, Francis, Paul T, Lehtiö, Janne, Aarsland, Dag. . Synaptic markers of cognitive decline in neurodegenerative diseases: a proteomic approach. In Brain : a journal of neurology, 141, 582-595. doi:10.1093/brain/awx352. https://pubmed.ncbi.nlm.nih.gov/29324989/

8. Oh, Denise, Houston, Douglas W. 2017. Role of maternal Xenopus syntabulin in germ plasm aggregation and primordial germ cell specification. In Developmental biology, 432, 237-247. doi:10.1016/j.ydbio.2017.10.006. https://pubmed.ncbi.nlm.nih.gov/29037933/

9. Sofer, Tamar, Emery, Leslie, Jain, Deepti, Franceschini, Nora, Wassel, Christina L. 2019. Variants Associated with the Ankle Brachial Index Differ by Hispanic/Latino Ethnic Group: a genome-wide association study in the Hispanic Community Health Study/Study of Latinos. In Scientific reports, 9, 11410. doi:10.1038/s41598-019-47928-5. https://pubmed.ncbi.nlm.nih.gov/31388106/