Detection of somatic mutations in the mitochondrial DNA control region D‑loop in brain tumors: The first report in Malaysian patients
| Autor: | Khairol Naaim Mohd Nasir, Jafri Malin Abdullah, Khalilah Haris, Abdul Rahman Izaini Ghani, Abdul Aziz Mohamed Yusoff, Zamzuri Idris, Siti Zulaikha Nashwa Mohd Khair |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Cancer Research Mitochondrial DNA Malaysian patients Brain tumor mitochondrial DNA Biology medicine.disease_cause DNA sequencing 03 medical and health sciences 0302 clinical medicine Germline mutation medicine somatic mutation D-loop Gene Genetics Mutation Articles medicine.disease 030104 developmental biology Oncology 030220 oncology & carcinogenesis brain tumors Cancer biomarkers Carcinogenesis |
| Zdroj: | Oncology Letters |
| ISSN: | 1792-1082 1792-1074 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|