Theoretical and Natural Science
- The Open Access Proceedings Series for Conferences
Proceedings of the International Conference on Modern Medicine and Global Health (ICMMGH 2023)
Series Vol. 6 , 03 August 2023
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Analysis on the effect of genes on amyotrophic lateral sclerosis
* Author to whom correspondence should be addressed.
Abstract
Amyotrophic Lateral Sclerosis (ALS) is a progressive weakness and atrophy of the muscles including the bulb (the part of the muscles innervated by the medulla oblongata), limbs, trunk, chest, and abdomen following injury to upper and lower motor neurons. However, the reasons for developing ALS are still not very clear. Both genetic defects and environmental factors may damage motor neurons. At present, ALS is a difficult disease to cure. For environmental factors, people can change their lifestyles to reduce or avoid the effects of the environment. However, inherited genetic defects are hard to avoid. Therefore, in this paper, the author explores the treatment of ALS by analyzing and summarizing a large number of papers and experimental studies learning the relationship between genes and ALS. In conclusion, the gene TARDBP and the gene C9ORF72 were found in a large number of disease-causing genes. Mutations in these genes can lead to changes in the encoded proteins that cause the development of ALS disease.
Keywords
ALS, TARDBP, C9ORF72
References
1. Neupane, P., Thada, P. K., Singh, P., Faisal, A. R., Rai, N., Poudel, P., Waleed, M. S., Quinonez, J., Ruxmohan, S., Jain, E. Investigating Edaravone Use for Management of Amyotrophic Lateral Sclerosis (ALS): A Narrative Review. Cureus 15(1), e33746 (2023). doi: 10.7759/cureus.33746.
2. Pinarbasi, E. S., Cağatay, T., Fung, H. Y. J., Li, Y. C., Chook, Y. M., Thomas, P. J. Active nuclear import and passive nuclear export are the primary determinants of TDP-43 localization. Sci Rep. 8(1), 7083 (2018). doi: 10.1038/s41598-018-25008-4.
3. Suk, T. R., Rousseaux, M. W. C. The role of TDP-43 mislocalization in amyotrophic lateral sclerosis. Mol Neurodegener 15(1), 45 (2020). doi: 10.1186/s13024-020-00397-1.
4. Romano, R., De Luca, M., Del Fiore, V. S., Pecoraro, M., Lattante, S., Sabatelli, M., La Bella, V., Bucci, C. Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation. Brain Commun 4(6), fcac315 (2022). doi: 10.1093/braincomms/fcac315.
5. Guo, Q., Zheng, X., Yang, P., Pang, X., Qian, K., Wang, P., Xu, S., Sheng, D., Wang, L., Cao, J., Lu, W., Zhang, Q., Jiang, X. Small interfering RNA delivery to the neurons near the amyloid plaques for improved treatment of Alzheimer׳s disease. Acta Pharm Sin B 9(3), 590-603 (2019). doi: 10.1016/j.apsb.2018.12.010.
6. Zanini, G., Selleri, V., Nasi, M., De Gaetano, A., Martinelli, I., Gianferrari, G., Lofaro, F. D., Boraldi, F., Mandrioli, J., Pinti, M. Mitochondrial and Endoplasmic Reticulum Alterations in a Case of Amyotrophic Lateral Sclerosis Caused by TDP-43 A382T Mutation. Int J Mol Sci. 23(19), 11881 (2022). doi: 10.3390/ijms231911881.
7. Theunissen, F., West, P. K., Brennan, S., Petrović, B., Hooshmand, K., Akkari, P. A., Keon, M., Guennewig, B. New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis. Transl Neurodegener. 10(1), 46 (2021). doi: 10.1186/s40035-021-00272-z.
8. Cicardi, M. E., Hallgren, J. H., Mawrie, D., Krishnamurthy, K., Markandaiah, S. S., Nelson, A. T., Kankate, V., Anderson, E. N., Pasinelli, P., Pandey, U. B., Eischen, C. M., Trotti, D. C9orf72 poly (PR) mediated neurodegeneration is associated with nucleolar stress. bioRxiv [Preprint] (2023). doi: 10.1101/2023.02.16.528809.
9. McGoldrick, P., Lau, A., You, Z., Durcan, T. M., Robertson, J. Loss of C9orf72 perturbs the Ran-GTPase gradient and nucleocytoplasmic transport, generating compositionally diverse Importin β-1 granules. Cell Rep. 42(3), 112134 (2023). doi: 10.1016/j.celrep.2023.112134.
10. Tu, W. Y., Xu, W., Zhang, J., Qi, S., Bai, L., Shen, C., Zhang, K. C9orf72 poly-GA proteins impair neuromuscular transmission. Zool Res. 44(2), 331-340 (2023). doi: 10.24272/j.issn.2095-8137.2022.356.
11. Lejman, J., Panuciak, K., Nowicka, E., Mastalerczyk, A., Wojciechowska, K., Lejman, M. Gene Therapy in ALS and SMA: Advances, Challenges and Perspectives. Int J Mol Sci. 24(2), 1130 (2023). doi: 10.3390/ijms24021130.
Data Availability
The datasets used and/or analyzed during the current study will be available from the authors upon reasonable request.
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- Volume Title
- Proceedings of the International Conference on Modern Medicine and Global Health (ICMMGH 2023)
- ISBN (Print)
- 978-1-915371-65-2
- ISBN (Online)
- 978-1-915371-66-9
- Published Date
- 03 August 2023
- Series
- Theoretical and Natural Science
- ISSN (Print)
- 2753-8818
- ISSN (Online)
- 2753-8826
- DOI
- 10.54254/2753-8818/6/20230230
- Copyright
- © 2023 The Author(s)
- Open Access
- This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited