What is gene ontology?
Gene ontology seeks to explain the biological roles of a specific gene. A gene's ontology includes its molecular function, biological process, and cellular component [1]. In other words, what does the gene's product do, which process is it a part of and where is it located.
Molecular Function: Defined as the activities done by a gene product at the molecular level which could include its catalytic or enzymatic abilities.
Biological Process: This includes larger functions of the cell encapsulating many molecular functions. For example cellular respiration or apoptosis (cell death).
Cellular Component: Referring to the exact location or placement of the gene product in the cell, not relating to its function or role.
Molecular Function: Defined as the activities done by a gene product at the molecular level which could include its catalytic or enzymatic abilities.
Biological Process: This includes larger functions of the cell encapsulating many molecular functions. For example cellular respiration or apoptosis (cell death).
Cellular Component: Referring to the exact location or placement of the gene product in the cell, not relating to its function or role.
Discussion
Based on the gene ontology of OPA3, we know that the protein is involved in lipid metabolism and is in the mitochondrial membrane, the specific molecular function is unknown [2]. Additional research linked OPA3 to mitochondrial membrane homeostasis, apoptosis and ferroptosis [3], [4], [5].
The focus of current research on OPA3 should be to uncover the molecular function(s) of the protein in order to better understand the disease pathology of ADOA. Performing experiments relating to the mutations in OPA3 and how mitochondrial health is affected may give insight into the protein's function. Because ADOA causes optic atrophy, the death of cells in the optic nerve, research should narrow in on mitochondria within retinal ganglion cells, or other cells in the retina.
The focus of current research on OPA3 should be to uncover the molecular function(s) of the protein in order to better understand the disease pathology of ADOA. Performing experiments relating to the mutations in OPA3 and how mitochondrial health is affected may give insight into the protein's function. Because ADOA causes optic atrophy, the death of cells in the optic nerve, research should narrow in on mitochondria within retinal ganglion cells, or other cells in the retina.
This web page was produced as an assignment for Genetics 564, a capstone course at UW-Madison.
References
[1] Gene Ontology - an overview | ScienceDirect Topics
[2] Interpro,Optic atrophy 3 protein (Q9H6K4) - protein - InterPro (ebi.ac.uk)
[3] Ryu, S.-W., Jeong, H. J., Choi, M., Karbowski, M., & Choi, C. (2010). Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation. Cellular and Molecular Life Sciences, 67(16), 2839–2850. https://doi.org/10.1007/s00018-010-0365-z
[4] Sergouniotis, P. I., Perveen, R., Thiselton, D. L., Giannopoulos, K., Sarros, M., Davies, J. R., Biswas, S., Ansons, A. M., Ashworth, J. L., Lloyd, I. C., Black, G. C., & Votruba, M. (2015). Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics, 16(1), 69–75. https://doi.org/10.1007/s10048-014-0416-y
[5] Wang, Y., Ying, X., Wang, Y., Zou, Z., Yuan, A., Xiao, Z., Geng, N., Qiao, Z., Li, W., Lu, X., & Pu, J. (2023). Hydrogen sulfide alleviates mitochondrial damage and ferroptosis by regulating OPA3–NFS1 axis in doxorubicin-induced cardiotoxicity. Cellular Signalling, 107, 110655. https://doi.org/10.1016/j.cellsig.2023.110655