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Somatic mitochondrial DNA D-loop mutations in meningioma discovered: A preliminary data
Abdul Aziz Mohamed Yusoff1, Siti Zulaikha Nashwa Mohd Khair1, Wan Salihah Wan Abdullah1
1Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
Background And Objective:
Meningiomas are among the most common intracranial tumors of the central nervous system. It is widely accepted that the initiation and progression of meningiomas involve the accumulation of nucleus genetic alterations, but little is known about the implication of mitochondrial genomic alterations during development of these tumors. The human mitochondrial DNA (mtDNA) contains a short hypervariable, noncoding displacement loop control region known as the D-Loop. Alterations in the mtDNA D-loop have been reported to occur in most types of human cancers. The purpose of this study was to assess the mtDNA D-loop mutations in Malaysian meningioma patients.
Materials And Methods:
Genomic DNA was extracted from 21 fresh-frozen tumor tissues and blood samples of the same meningioma patients. The entire mtDNA D-loop region (positions 16024-576) was polymerase chain reaction amplified using designed primers, and then amplification products were purified before the direct DNA sequencing proceeds.
Results:
Overall, 10 (47.6%) patients were detected to harbor a total of 27 somatic mtDNA D-loop mutations. Most of these mtDNA mutations were identified in the hypervariable segment II (40.7%), with 33.3% being located mainly in the conserved sequence block II of the D310 sequence. Furthermore, 58 different germline variations were observed at 21 nucleotide positions.
Conclusion:
Our results suggest that mtDNA alterations in the D-loop region may be an important and early event in developing meningioma. Further studies are needed, including validation in a larger patient cohort, to verify the clinicopathological outcomes of mtDNA mutation biomarkers in meningiomas.
Insights
Mitochondrial DNA D-loop mutations were found in nearly half of Malaysian meningioma patients, suggesting they may play an early role in tumor development. Further research is needed to confirm these findings and their clinical significance.
Area of Science:
- Neuro-oncology
- Cancer genomics
- Mitochondrial genetics
Background:
- Meningiomas are common central nervous system tumors.
- Nuclear genetic alterations are implicated in meningioma development.
- The role of mitochondrial DNA (mtDNA) alterations, specifically in the D-loop region, is less understood in meningiomas.
Purpose of the Study:
- To investigate the presence and spectrum of mtDNA D-loop mutations in Malaysian patients with meningioma.
- To explore the potential involvement of mtDNA D-loop alterations in meningioma pathogenesis.
Main Methods:
- DNA was extracted from 21 meningioma tumor tissues and matched blood samples.
- The entire mtDNA D-loop region was amplified using polymerase chain reaction.
- Direct DNA sequencing was performed on the amplified products.
Main Results:
- Somatic mtDNA D-loop mutations were detected in 10 out of 21 (47.6%) patients, totaling 27 mutations.
- The majority of these mutations occurred in the hypervariable segment II (40.7%), particularly within the D310 sequence.
- Fifty-eight distinct germline variations were identified across 21 nucleotide positions.
Conclusions:
- mtDNA D-loop alterations may represent an early event in meningioma development.
- Further studies with larger cohorts are required to validate these findings.
- The potential of mtDNA mutation biomarkers in meningiomas warrants further investigation.
