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    Aim: Mitochondrial DNA (mtDNA) alterations play an important role in the multistep processes of cancer development. Gliomas are among the most diagnosed brain cancer. The relationship between mtDNA alterations and different grades of gliomas are still elusive. This study aimed to elucidate the profile of somatic mtDNA mutations in different grades of gliomas and correlate it with clinical phenotype. Materials & methods: Forty histopathologically confirmed glioma tissue samples and their matched blood were collected and subjected for mtDNA sequencing. Results & conclusion: About 75% of the gliomas harbored at least one somatic mutation in the mtDNA gene, and 45% of these mutations were pathogenic. Mutations were scattered across the mtDNA genome, and the commonest nonsynonymous mutations were located at complex I and IV of the mitochondrial respiratory chain. These findings may have implication for future research to determine the mitochondrial energetics and its downstream metabolomics on gliomas.


    Bee Hong Soon, Nadiah Abu, Nor Azian Abdul Murad, Sue-Mian Then, Azizi Abu Bakar, Farizal Fadzil, Jegan Thanabalan, Mohd Saffari Mohd Haspani, Charng Jeng Toh, Ramesh Kumar, Ainul Syahrilfazli Jaafar, Anis Nabillah Mohd Azli, Mohd Syakir Mohd Azahar, Sanmugarajah Paramasvaran, Kamalanathan Palaniandy, Azmi Mohd Tamil, Rahman Jamal. Somatic mitochondrial DNA mutations in different grades of glioma. Personalized medicine. 2022 Jan;19(1):25-39

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    PMID: 34873928

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