Mrps21-KO Mouse

Mrps21, Mitochondrial Ribosomal Protein S21, is an essential component for the structural and functional integrity of the mitoribosome complex [1]. Mitoribosomes are crucial for mitochondrial protein synthesis, which is involved in various cellular processes such as energy production through oxidative phosphorylation [1].

In a study on hepatocellular carcinoma (HCC), MRPS21 was among 14 MRP genes significantly upregulated in tumor samples compared to normal samples, suggesting its potential as a diagnostic marker for HCC [2]. In the context of spontaneous coronary artery dissection (SCAD), a SNP (rs580060) in the 3'-UTR of MRPS21 was an A-to-I modification SNP, and a genome-wide significant SNP (rs3818978) in the 5'-UTR was related to m6A modification, indicating the involvement of RNA modifications of MRPS21 in SCAD [3]. Also, a region containing MRPS21-PRPF3 showed suggestive evidence of association with the progression from islet autoimmunity to type 1 diabetes [4]. In equine skeletal muscle, MRPS21 expression increased following a ten-month exercise training period, suggesting its role in muscle-related functional changes [5].

In summary, Mrps21 is vital for mitoribosome function. Its abnormal regulation, whether through differential expression in HCC or RNA modifications in SCAD, and its association with the progression of islet autoimmunity to type 1 diabetes, indicates its importance in multiple disease conditions. The increase in its expression with exercise training in horses also points to its role in muscle-related physiological adaptations. These findings from various studies help in understanding the diverse functions of Mrps21 in different biological and disease contexts.

References:

1. Cheong, Agnes, Lingutla, Ranjana, Mager, Jesse. 2020. Expression analysis of mammalian mitochondrial ribosomal protein genes. In Gene expression patterns : GEP, 38, 119147. doi:10.1016/j.gep.2020.119147. https://pubmed.ncbi.nlm.nih.gov/32987154/

2. Zhao, Jin-Wei, Zhao, Wei-Yi, Cui, Xin-Hua, Shi, Jia-Cheng, Yu, Lu. 2023. The role of the mitochondrial ribosomal protein family in detecting hepatocellular carcinoma and predicting prognosis, immune features, and drug sensitivity. In Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 26, 496-514. doi:10.1007/s12094-023-03269-4. https://pubmed.ncbi.nlm.nih.gov/37407805/

3. Chai, Tianci, Tian, Mengyue, Yang, Xiaojie, Lin, Xinjian, Chen, Liangwan. 2021. Genome-Wide Identification of RNA Modifications for Spontaneous Coronary Aortic Dissection. In Frontiers in genetics, 12, 696562. doi:10.3389/fgene.2021.696562. https://pubmed.ncbi.nlm.nih.gov/34276799/

4. Onengut-Gumuscu, Suna, Paila, Umadevi, Chen, Wei-Min, Rewers, Marian J, Rich, Stephen S. 2020. Novel genetic risk factors influence progression of islet autoimmunity to type 1 diabetes. In Scientific reports, 10, 19193. doi:10.1038/s41598-020-75690-6. https://pubmed.ncbi.nlm.nih.gov/33154504/

5. McGivney, Beatrice A, McGettigan, Paul A, Browne, John A, Katz, Lisa M, Hill, Emmeline W. 2010. Characterization of the equine skeletal muscle transcriptome identifies novel functional responses to exercise training. In BMC genomics, 11, 398. doi:10.1186/1471-2164-11-398. https://pubmed.ncbi.nlm.nih.gov/20573200/