Open Access

Detection of somatic mutations in the mitochondrial DNA control region D‑loop in brain tumors: The first report in Malaysian patients

  • Authors:
    • Abdul Aziz Mohamed Yusoff
    • Khairol Naaim Mohd Nasir
    • Khalilah Haris
    • Siti Zulaikha Nashwa Mohd Khair
    • Abdul Rahman Izaini Abdul Ghani
    • Zamzuri Idris
    • Jafri Malin Abdullah
  • View Affiliations

  • Published online on: August 28, 2017     https://doi.org/10.3892/ol.2017.6851
  • Pages: 5179-5188
  • Copyright: © Mohamed Yusoff et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Although the role of nuclear‑encoded gene alterations has been well documented in brain tumor development, the involvement of the mitochondrial genome in brain tumorigenesis has not yet been fully elucidated and remains controversial. The present study aimed to identify mutations in the mitochondrial DNA (mtDNA) control region D‑loop in patients with brain tumors in Malaysia. A mutation analysis was performed in which DNA was extracted from paired tumor tissue and blood samples obtained from 49 patients with brain tumors. The D‑loop region DNA was amplified using the PCR technique, and genetic data from DNA sequencing analyses were compared with the published revised Cambridge sequence to identify somatic mutations. Among the 49 brain tumor tissue samples evaluated, 25 cases (51%) had somatic mutations of the mtDNA D‑loop, with a total of 48 mutations. Novel mutations that had not previously been identified in the D‑loop region (176 A‑deletion, 476 C>A, 566 C>A and 16405 A‑deletion) were also classified. No significant associations between the D‑loop mutation status and the clinicopathological parameters were observed. To the best of our knowledge, the current study presents the first evidence of alterations in the mtDNA D‑loop regions in the brain tumors of Malaysian patients. These results may provide an overview and data regarding the incidence of mitochondrial genome alterations in Malaysian patients with brain tumors. In addition to nuclear genome aberrations, these specific mitochondrial genome alterations may also be considered as potential cancer biomarkers for the diagnosis and staging of brain cancers.
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November-2017
Volume 14 Issue 5

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Mohamed Yusoff AA, Mohd Nasir KN, Haris K, Mohd Khair SZ, Abdul Ghani AR, Idris Z and Abdullah JM: Detection of somatic mutations in the mitochondrial DNA control region D‑loop in brain tumors: The first report in Malaysian patients. Oncol Lett 14: 5179-5188, 2017.
APA
Mohamed Yusoff, A.A., Mohd Nasir, K.N., Haris, K., Mohd Khair, S.Z., Abdul Ghani, A.R., Idris, Z., & Abdullah, J.M. (2017). Detection of somatic mutations in the mitochondrial DNA control region D‑loop in brain tumors: The first report in Malaysian patients. Oncology Letters, 14, 5179-5188. https://doi.org/10.3892/ol.2017.6851
MLA
Mohamed Yusoff, A. A., Mohd Nasir, K. N., Haris, K., Mohd Khair, S. Z., Abdul Ghani, A. R., Idris, Z., Abdullah, J. M."Detection of somatic mutations in the mitochondrial DNA control region D‑loop in brain tumors: The first report in Malaysian patients". Oncology Letters 14.5 (2017): 5179-5188.
Chicago
Mohamed Yusoff, A. A., Mohd Nasir, K. N., Haris, K., Mohd Khair, S. Z., Abdul Ghani, A. R., Idris, Z., Abdullah, J. M."Detection of somatic mutations in the mitochondrial DNA control region D‑loop in brain tumors: The first report in Malaysian patients". Oncology Letters 14, no. 5 (2017): 5179-5188. https://doi.org/10.3892/ol.2017.6851