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Background: Diabetes Mellitus (DM) is a heterogeneous disease caused by hereditary and ecological factors. One form of diabetes mellitus that is related to genetic factors is type 2 DM.  type 2 diabetec melitus caused by dysfunction of insulin secretion, due to the presence of inhibition in the production of Adenosine Triphosphate (ATP) necessary in the process of its secretion by cells β glands of the pancreas. The dysfunction is related to the mutation of A to G at the 3243rd nucleotide position of the mitochondrial DNA tRNA gene. The purpose of the study was to find out whether there was a heteroplasmic mtDNA mutation in the genes of respondents to type 2 diabetes mellitus using the ARMS-PCR method. 

Methods: The type of research used is descriptive research, the sample used in this study is a blood sample in respondents of type 2 diabetes mellitus. The method chosen in this study is the Amplification Refractory Mutation System (ARMS)-PCR Method which is a PCR application that uses a specific primer.

Results: According to this study, 20 of the 20 samples evaluated using the ARMS-PCR method were positive for the heteroplasmic A3243G mutation, which is defined by the presence of DNA bands measuring 200 bp on both tubes. These pathogenic mutations are inherited maternally and can cause a variety of disorders.

Conclusion: After analyzing all samples, this study has concluded that they all contain hetero plasma mutations. The suggestions provided in this study are expected to be useful for future researchers who employ samples from other public health centers and hospitals.


Type 2 Diabetes Mellitus A3243G mutation Detection

Article Details

How to Cite
Syarif, S., Purnama, T., Tina, A. R., & Septiana, I. (2023). Detection of mtDNA Mutations Using the Amplification Refractory Mutation System-Polymerase Chain Reaction Method in Type II Diabetes Mellitus Patients in Publich Health Center Poasia: Detection of mtDNA Mutations. INDONESIAN JOURNAL OF HEALTH SCIENCES RESEARCH AND DEVELOPMENT (IJHSRD), 5(2), 139–148.


  1. WY So, MCY Ng, SC Lee, T Sanke, HK Lee JC. Genetics of Type 2 Diabetes Mellitus. J Japan Diabetes Soc. 2004;47(1):69–76.
  2. IDF. International Diabetes Federation Diabetes Atlas [Internet]. Edward J Boyko DJM, Suvi Karuranga, Lorenzo Piemonte PR, Pouya Saeedi HS, editors. Vol. 10, IDF. IDF; 2021. 135 p. Available from:
  3. Suryanto T, Adji H. Hubungan antara Kadar 25(OH)D dan Berdasarkan Lama Sakit pada Anak dengan 3 C-Peptida Diabetes Melitus Tipe 1 The Correlation between 25(OH)D and C-Peptide Levels Based on Illness Duration in Children 3 with Type 1 Diabetes Mellitus. J Kedokt Brawijaya [Internet]. 2018;30(1):29–35. Available from:
  4. Maassen JA, ’t Hart LM, Janssen GMC, Reiling E, Romijn JA, Lemkes HH. Information Processing and Molecular Signalling Mitochondrial diabetes and its lessons for common Type 2 diabetes.
  5. WHO. Diabetes [Internet]. World Health Organisation. 2020 [cited 2023 Nov 26]. Available from:
  6. Case Report. Kendari; 2023.
  7. Maksum IP, Sriwidodo, Suprijana O, Natadisastra G, Nuswantara S, Noer AS. Identifikasi Mutasi Heteroplasmi a3243G Dna Mitokondria Dan Studi Pewarisan Maternal Pada Pasien Diabetes Melitus Tipe 2. Bionatura - J Ilmu-ilmu Hayati dan Fis. 2010;12(2):78–85.
  8. Finsterer J. Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Vol. 116, Acta Neurologica Scandinavica. 2007. p. 1–14.
  9. Rong E, Wang H, Hao S, Fu Y, Ma Y, Wang T. Heteroplasmy Detection of Mitochondrial DNA A3243G Mutation Using Quantitative Real-Time PCR Assay Based on TaqMan-MGB Probes. Biomed Res Int. 2018;2018.
  10. Harihara S, Nakamura K, Takubo K, Takeuchi F. Spontaneous event of mitochondrial DNA mutation, A3243G, found in a family of identical twins. Mitochondrial DNA. 2013 Apr;24(2):158–62.
  11. Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF The relationship between mutation load and clinical phenotypes. Vol. 120, Brain. 1997.
  12. Burr SP, Chinnery PF. Heredity and segregation of mtDNA [Internet]. The Human Mitochondrial Genome: From Basic Biology to Disease. INC; 2020. 87–107 p. Available from:
  13. Naing A, Kenchaiah M, Krishnan B, Mir F, Charnley A, Egan C, et al. Maternally inherited diabetes and deafness (MIDD): Diagnosis and management. J Diabetes Complications. 2014;28(4):542–6.
  14. Narbonne H, Paquis-Fluckinger V, Valero R, Heyries L, Pellissier JF, Vialettes B. Gastrointestinal tract symptoms in Maternally Inherited Diabetes and Deafness (MIDD) Manifestations digestives des diabètes et surdités de transmission matrilinéaire (MIDD) [Internet]. 2004. Available from:
  15. Tang K, Gao Z, Han C, Zhao S, Du X, Wang W. Screening of mitochondrial tRNA mutations in 300 infants with hearing loss. Mitochondrial DNA Part A DNA Mapping, Seq Anal. 2019 Feb 17;30(2):345–50.
  16. Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, et al. The spectrum of hearing loss due to mitochondrial DNA defects. Vol. 123, Brain. 2000.
  17. Nesbitt V, Pitceathly RDS, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, et al. The UK MRC Mitochondrial Disease Patient Cohort Study: Clinical phenotypes associated with the m.3243A>G mutation - Implications for diagnosis and management. J Neurol Neurosurg Psychiatry. 2013;84(8):936–8.
  18. Ohkubo E, Aida K, Chen J, Hayashi JI, Isobe K, Tawata M, et al. A patient with type 2 diabetes mellitus associated with mutations in calcium sensing receptor gene and mitochondrial DNA. Biochem Biophys Res Commun. 2000;278(3):808–13.
  19. Gal A, Komlosi K, Maasz A, Pentelenyi K, Remenyi V, Ovary C, et al. Analysis of mtDNA A3243G mutation frequency in Hungary. Cent Eur J Med. 2010;5(3):322–8.
  20. Pierron D, Rocher C, Amati-Bonneau P, Reynier P, Martin-Négrier ML, Allouche S, et al. New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation. BMC Med Genet. 2008;9:1–13.
  21. Maryam Wahid AKN. Maternally Inherited Type 2 Diabetes and Deafness: Clinical and Molecular Aspect in Pakistan. J Rawalpindi Med Coll [Internet]. 2009;13(1). Available from:
  22. Geneaid. gSYNCTM DNA Extraction Kit. 2023. (02.10.17).
  23. Surudarma IW. Deteksi Mutasi A3243G mtDNA dengan Metode PCR Allele ’ s Specific Amplification ( PASA ) pada Penderita Diabetes Melitus Gestational ( DMG ) oleh. 2017;
  24. Wang PW, Lin TK, Weng SW, Liou CW. Mitochondrial DNA variants in the pathogenesis of type 2 diabetes - Relevance of asian population studies. Rev Diabet Stud. 2009;6(4):237–46.
  25. Morovvati S, Nakagawa M, Sato Y, Hamada K, Higuchi I, Osame M. Phenotypes and mitochondrial DNA substitutions in families with A3243G mutation. 2002;104–8.