Mutasi Daerah D-Loop DNA Mitokondria pada Penderita Asma

Authors

  • Rina Budi Satiyarti Universitas Islam Negeri Sunan Gunung Djati, Bandung, Indonesia
  • Yohana Permata Sari Universitas Islam Negeri Sunan Gunung Djati, Bandung, Indonesia
  • Tina Dewi Rosahdi Universitas Islam Negeri Sunan Gunung Djati, Bandung, Indonesia

DOI:

https://doi.org/10.23887/jstundiksha.v12i2.51433

Keywords:

mtDNA, D-Loop, PCR, mutasi, Asma

Abstract

Asma adalah penyakit radang kronis yang disebabkan oleh inflamasi sel darah putih. Asma dapat terjadi karena adanya reaksi terhadap lingkungan dan kombinasi rangsangan genetik. Rangsangan genetik akan mempengaruhi urutan basa nitrogen pada asam deoksiribonukleat mitokondria (mtDNA). Tujuan penelitian ini adalah menganaslisis jenis mutasi yang terjadi di daerah D-Loop mtDNA penderita asma. Pada penelitian ini dilakukan penyiapan cetakan DNA dari sel akar rambut penderita asma dan manusia normal menggunakan metode buffer lisis. Amplifikasi fragmen D-Loop mitokondria dari DNA cetakan menggunakan teknik Polymerase Chain reaction (PCR). Deteksi amplikon fragmen D-Loop dilakukan dengan cara memisahkan amplikon berdasarkan ukuran molekul melalui metode elektroforesis gel agarosa, dan penentuan urutan nukleotida fragmen D-Loop ditentukan melalui metode dideoksi Sanger. Dari hasil pensejajaran urutan DNA secara in silico, diperoleh 7 mutasi, yaitu a(16037)-, c(16108)T, g(16129)A, a(16162)G, t(16172)C, t(16304)C, t(16519)C ditemukan pada penderita asma dan sesuai dengan standar dari basis data Cambridge Reference Sequence (CRS). Pada pensejajaran urutan nukteotida antara kontrol CRS dan manusia normal tidak ditemukan adanya mutasi substitusi, ataupun delesi yang berkaitan dengan mutasi pada penyakit asma. Adanya mutasi memperkuat data sebagai ciri genotip gangguan pernafasan seperti penyakit asma.

References

Aguilera-Aguirre, L., Bacsi, A., Saavedra-Molina, A., Kurosky, A., Sur, S., & Boldogh, I. (2009). Mitochondrial Dysfunction Increases Allergic Airway Inflammation. The Journal of Immunology, 183(8), 5379–5387. https://doi.org/10.4049/jimmunol.0900228.

Amorim, A., Fernandes, T., & Taveira, N. (2019). Mitochondrial DNA in human identification: A review. PeerJ, 7. https://doi.org/10.7717/peerj.7314.

Anandan, C., Nurmatov, U., Van Schayck, O. C. P., & Sheikh, A. (2010). Is the prevalence of asthma declining? Systematic review of epidemiological studies. Allergy: European Journal of Allergy and Clinical Immunology, 65(2), 152–167. https://doi.org/10.1111/j.1398-9995.2009.02244.x.

Andres, M. P., Cardena, M. M. S. G., Fridman, C., & Podgaec, S. (2018). Polymorphisms of mitochondrial DNA control region are associated to endometriosis. Journal of Assisted Reproduction and Genetics, 35(3), 533–538. https://doi.org/10.1007/s10815-017-1082-4.

del Carmen Vennera, M., & Picado, C. (2014). Novel diagnostic approaches and biological therapeutics for intrinsic asthma. International Journal of General Medicine, 7, 365–371. https://doi.org/10.2147/IJGM.S45259.

Derisoud, E., Jouneau, L., Dubois, C., Archilla, C., Jaszczyszyn, Y., Legendre, R., … Chavatte-Palmer, P. (2022). Maternal age affects equine day 8 embryo gene expression both in trophoblast and inner cell mass. BMC Genomics, 23(1). https://doi.org/10.1186/s12864-022-08593-7.

Graham, B. L., Steenbruggen, I., Barjaktarevic, I. Z., Cooper, B. G., Hall, G. L., Hallstrand, T. S., … Thompson, B. R. (2019). Standardization of spirometry 2019 update an official American Thoracic Society and European Respiratory Society technical statement. American Journal of Respiratory and Critical Care Medicine, 200(8), E70–E88. https://doi.org/10.1164/rccm.201908-1590ST.

Gupta, M., K., Rakesh Gupta, R., Khunteta, A., Swarnkar, S., K. (2017). An Overview of Asthma and its treatment. Journal of Biomedical and Pharmaceutical Research, 6(5), 32–36.

Habib, N., Pasha, M. A., & Tang, D. D. (2022). Current Understanding of Asthma Pathogenesis and Biomarkers. Cells, 11(17), 1–17. https://doi.org/10.3390/cells11172764.

Hanafi, N. S., Agarwal, D., Chippagiri, S., Brakema, E. A., Pinnock, H., Sheikh, A., … Khoo, E. M. (2021). Chronic respiratory disease surveys in adults in low- and middle-income countries: A systematic scoping review of methodological approaches and outcomes. Journal of Global Health, 11, 1–11. https://doi.org/10.7189/jogh.11.04026.

Hill, C., Soares, P., Mormina, M., Macaulay, V., Clarke, D., Blumbach, P. B., … Richards, M. (2007). A mitochondrial stratigraphy for Island Southeast Asia. American Journal of Human Genetics, 80(1), 29–43. https://doi.org/10.1086/510412.

Hough, K. P., Curtiss, M. L., Blain, T. J., Liu, R. M., Trevor, J., Deshane, J. S., & Thannickal, V. J. (2020). Airway Remodeling in Asthma. Frontiers in Medicine, 7(May). https://doi.org/10.3389/fmed.2020.00191.

Hutchison, C., Newbold, J., Potter, S., & Edgell, M. (1974). Maternal inheritance of mitochondrial DNA. Nature, 251, 536–538. https://doi.org/10.1038/251536a0.

Jang, H., Kim, M., Hong, J. Y., Cho, H. J., Kim, C. H., Kim, Y. H., … Kim, K. W. (2020). Mitochondrial and nuclear mitochondrial variants in allergic diseases. Allergy, Asthma and Immunology Research, 12(5), 877–884. https://doi.org/10.4168/aair.2020.12.5.877.

Kaplan, A. G., Balter, M. S., Bell, A. D., Kim, H., & McIvor, R. A. (2009). Diagnosis of asthma in adults. CMAJ. Canadian Medical Association Journal, 181(10), 210–220. https://doi.org/10.1503/cmaj.080006.

Lim, R. H., Kobzik, L., & Dahl, M. (2010). Risk for asthma in offspring of asthmatic mothers versus fathers: A meta-analysis. PLoS ONE, 5(4). https://doi.org/10.1371/journal.pone.0010134.

Lin, L. Sen, Wang, J. F., Song, J., Liu, Y., Zhu, G., Dai, Y., … Chen, X. (2019). Cooperation of endogenous and exogenous reactive oxygen species induced by zinc peroxide nanoparticles to enhance oxidative stress-based cancer therapy. Theranostics, 9(24), 7200–7209. https://doi.org/10.7150/thno.39831.

Louis, R., Satia, I., Ojanguren, I., Schleich, F., Bonini, M., Tonia, T., … Usmani, O. S. (2022). European Respiratory Society guidelines for the diagnosis of asthma in adults. European Respiratory Journal, 60(3). https://doi.org/10.1183/13993003.01585-2021.

Mori, K. M., McElroy, J. P., Weng, D. Y., Chung, S., Fadda, P., Reisinger, S. A., … Song, M. A. (2022). Lung mitochondrial DNA copy number, inflammatory biomarkers, gene transcription and gene methylation in vapers and smokers. EBioMedicine, 85, 1–14. https://doi.org/10.1016/j.ebiom.2022.104301.

Ngili, Y., Ubyaan, R., Palit, E. I. Y., Bolly, H. M. B., & Noer, A. S. (2012). Nucleotide mutation variants on D-loop HVS1/HVS2 mitochondrial DNA region: Studies on Papuan population, Indonesian. European Journal of Scientific Research, 72(1), 64–73.

Pang, L. J., Shao, J. Y., Liang, X. M., Xia, Y. F., & Zeng, Y. X. (2008). Mitochondrial DNA somatic mutations are frequent in nasopharyngeal carcinoma. Cancer Biology and Therapy, 7(2), 198–207. https://doi.org/10.4161/cbt.7.2.5256.

Papi, A., Blasi, F., Canonica, G. W., Morandi, L., Richeldi, L., & Rossi, A. (2020). Treatment strategies for asthma: Reshaping the concept of asthma management. Allergy, Asthma and Clinical Immunology, 16(1), 1–11. https://doi.org/10.1186/s13223-020-00472-8.

Porpodis, K., Tsiouprou, I., Apostolopoulos, A., Ntontsi, P., Fouka, E., Papakosta, D., … Domvri, K. (2022). Eosinophilic Asthma, Phenotypes-Endotypes and Current Biomarkers of Choice. Journal of Personalized Medicine, 12(7). https://doi.org/10.3390/jpm12071093.

Qian, L., Mehrabi Nasab, E., Athari, S. M., & Athari, S. S. (2022). Mitochondria signaling pathways in allergic asthma. Journal of Investigative Medicine : The Official Publication of the American Federation for Clinical Research, 70(4), 863–882. https://doi.org/10.1136/jim-2021-002098.

Raby, B. A., Klanderman, B., Murphy, A., Mazza, S., Camargo, C. A., Silverman, E. K., & Weiss, S. T. (2007). A common mitochondrial haplogroup is associated with elevated total serum IgE levels. Journal of Allergy and Clinical Immunology, 120(2), 351–358. https://doi.org/10.1016/j.jaci.2007.05.029.

Roger, A. J., Muñoz-Gómez, S. A., & Kamikawa, R. (2017). The Origin and Diversification of Mitochondria. Current Biology, 27(21), R1177–R1192. https://doi.org/10.1016/j.cub.2017.09.015.

Schurr, T. G., & Wallace, D. C. (2002). Mitochondrial DNA diversity in Southeast Asian populations. Human Biology, 74(3), 431–452. https://doi.org/10.1353/hub.2002.0034.

Shokolenko, I., & Alexeyev, M. (2022). Mitochondrial DNA: Consensuses and Controversies. Dna, 2(2), 131–148. https://doi.org/10.3390/dna2020010.

Singh, H., Kumar, S., Urs, A. B., & Kapoor, S. (2022). Identification of sequence polymorphisms in the D-loop region of mitochondrial DNA as valuable biomarkers for salivary gland tumors: an observational study. Egyptian Journal of Otolaryngology, 38(1), 0–5. https://doi.org/10.1186/s43163-022-00208-y.

Sockrider, M., & Fussner, L. (2020). What is asthma? American Journal of Respiratory and Critical Care Medicine, 202(9), P25–P26. https://doi.org/10.1164/rccm.2029P25.

Sylvester, C., Krishna, M. S., Rao, J. S., & Chandrasekar, A. (2018). Allele frequencies of mitochondrial DNA HVR III 514–524 (CA)n dinucleotide repeats in the Urali Kuruman tribal population of South India. Egyptian Journal of Forensic Sciences, 8(1). https://doi.org/10.1186/s41935-018-0083-5.

Townsend, M. C., & Dreger, M. (2020). Spirometry in Occupational Health-2020. Journal of Occupational and Environmental Medicine, 62(5), E208–E230. https://doi.org/10.1097/JOM.0000000000001851.

Tran, T. T. H., Nguyen, D. H., Tran, V. K., Nguyen, Q. L., Trinh, H. A., Luong, L. H., … Van Ta, T. (2020). Variation of Mitochondrial DNA HV1 AND HV2 of the Vietnamese Population. Advances in Experimental Medicine and Biology, 1292, 37–63. https://doi.org/10.1007/5584_2018_301.

Wang, Y., Huang, X., Peng, F., Han, H., Gu, Y., Liu, X., & Feng, Z. (2022). Association of variants m.T16172C and m.T16519C in whole mtDNA sequences with high altitude pulmonary edema in Han Chinese lowlanders. BMC Pulmonary Medicine, 22(1), 1–10. https://doi.org/10.1186/s12890-021-01791-1.

Wong, L.-P., Ong, R. T.-H., Poh, W.-T., Liu, X., Chen, P., Li, R., … Teo, Y.-Y. (2013). Deep whole-genome sequencing of 100 southeast Asian Malays. American Journal of Human Genetics, 92(1), 52–66. https://doi.org/10.1016/j.ajhg.2012.12.005.

Xu, W., Chen, R., Hu, B., Zein, J. G., Liu, C., Comhair, S. A. A., … Severe Asthma Research Program (SAR. (2019). Mitochondrial DNA Variation and Severe Asthma, (D), A2961–A2961. https://doi.org/10.1164/ajrccm-conference.2019.199.1_meetingabstracts.a2961.

Yang Ai, S. S., Hsu, K., Herbert, C., Cheng, Z., Hunt, J., Lewis, C. R., & Thomas, P. S. (2013). Mitochondrial DNA mutations in exhaled breath condensate of patients with lung cancer. Respiratory Medicine, 107(6), 911–918. https://doi.org/10.1016/j.rmed.2013.02.007.

Yang, I. V., Lozupone, C. A., & Schwartz, D. A. (2017). The environment, epigenome, and asthma. Journal of Allergy and Clinical Immunology, 140(1), 14–23. https://doi.org/10.1016/j.jaci.2017.05.011.

Yudhawati, R., & Krisdanti, D. P. A. (2019). Imunopatogenesis Asma. Jurnal Respirasi, 3(1), 26. https://doi.org/10.20473/jr.v3-i.1.2017.26-33.

Zifa, E., Daniil, Z., Skoumi, E., Stavrou, M., Papadimitriou, K., Terzenidou, M., … Mamuris, Z. (2012). Mitochondrial genetic background plays a role in increasing risk to asthma. Molecular Biology Reports, 39(4), 4697–4708. https://doi.org/10.1007/s11033-011-1262-8.

Downloads

Published

2023-10-22

How to Cite

Satiyarti, R. B., Sari, Y. P., & Rosahdi, T. D. (2023). Mutasi Daerah D-Loop DNA Mitokondria pada Penderita Asma. JST (Jurnal Sains Dan Teknologi), 12(2), 494–501. https://doi.org/10.23887/jstundiksha.v12i2.51433

Issue

Section

Articles