Ccdc90b-KO Mouse

Ccdc90b, encoding a coiled-coil domain-containing protein, is a member of a family of trimeric membrane-anchored proteins with a characteristic head-neck-stalk-anchor architecture. The protein's head domain can interact directly with the mitochondrial calcium uniporter (MCU) [2]. It may be involved in pathways related to mitochondrial calcium regulation, which is crucial for various cellular functions like energy metabolism and apoptosis.

A Mendelian randomization study indicated that Ccdc90b is associated with an increased risk of both unruptured (uIA) and ruptured (aSAH) cerebral aneurysms. For aSAH, the odds ratio was 1.318 (95% CI: 1.132-1.535, p = 0.0004), and for uIA, the odds ratio was 1.309 (95% CI: 1.05-1.632, p = 0.0165), suggesting its potential role in the pathogenesis of cerebral aneurysms [1]. Also, in silico analysis of microarray data identified Ccdc90b as a potential biomarker gene for teratozoospermia and azoospermia, and it was found among the hub genes with prognostic significance in lung adenocarcinoma [3,4].

In summary, Ccdc90b has important functions related to mitochondrial calcium regulation. Its association with cerebral aneurysms, male infertility-related diseases, and lung adenocarcinoma prognosis, as revealed through these studies, indicates its significance in understanding the mechanisms of these diseases. These findings may provide new insights for further research on disease pathogenesis and potential treatment strategies. [1,3,4]

References:

1. Wang, Shuai, Wang, Jiajun, Niu, Zihui, Hou, Shiqiang, Lin, Ning. 2024. Causal relationship between mitochondrial-associated proteins and cerebral aneurysms: a Mendelian randomization study. In Frontiers in neurology, 15, 1405086. doi:10.3389/fneur.2024.1405086. https://pubmed.ncbi.nlm.nih.gov/39087007/

2. Adlakha, Jyoti, Karamichali, Ioanna, Sangwallek, Juthaporn, Lupas, Andrei N, Hernandez Alvarez, Birte. 2019. Characterization of MCU-Binding Proteins MCUR1 and CCDC90B - Representatives of a Protein Family Conserved in Prokaryotes and Eukaryotic Organelles. In Structure (London, England : 1993), 27, 464-475.e6. doi:10.1016/j.str.2018.11.004. https://pubmed.ncbi.nlm.nih.gov/30612859/

3. Das, Suchismita, Guha, Pokhraj, Nath, Monika, Slama, Petr, Roychoudhury, Shubhadeep. 2022. A Comparative Cross-Platform Analysis to Identify Potential Biomarker Genes for Evaluation of Teratozoospermia and Azoospermia. In Genes, 13, . doi:10.3390/genes13101721. https://pubmed.ncbi.nlm.nih.gov/36292606/

4. Deng, Lili, Long, Fei, Wang, Ting, Yang, Yujun, Xie, Guoming. 2022. Identification of an Immune Classification and Prognostic Genes for Lung Adenocarcinoma Based on Immune Cell Signatures. In Frontiers in medicine, 9, 855387. doi:10.3389/fmed.2022.855387. https://pubmed.ncbi.nlm.nih.gov/35433762/