We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Detection of somatic mutations in the mitochondrial DNA control region D-loop in brain tumors: The first report in Malaysian patients.
- Authors
MOHAMED YUSOFF, ABDUL AZIZ; NASIR, KHAIROL NAAIM MOHD; HARIS, KHALILAH; Nashwa Mohd Khair, SITI ZULAIKHA; Izaini Abdul Ghani, ABDUL RAHMAN; IDRIS, ZAMZURI; ABDULLAH, JAFRI MALIN
- 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.
- Subjects
SOMATIC mutation; MITOCHONDRIAL DNA; BRAIN tumors; MALAYSIANS; BLOOD sampling; DISEASES
- Publication
Oncology Letters, 2017, Vol 14, Issue 5, p5179
- ISSN
1792-1074
- Publication type
Article
- DOI
10.3892/ol.2017.6851