Somatic mitochondrial DNA mutations in different grades of glioma

Bee Hong Soon1,2, Nadiah Abu1, Nor Azian Abdul Murad1

  • 1UKM Medical Molecular Biology Institute (UMBI), Universiti Kebangsaan Malaysia (UKM), Kuala Lumpur, Malaysia.

Personalized Medicine
|December 7, 2021
PubMed

Insights

Mitochondrial DNA (mtDNA) mutations are common in brain gliomas, with 45% being pathogenic. These findings offer insights into cancer development and potential therapeutic targets.

Area of Science:

  • Oncology
  • Genetics
  • Neuroscience

Background:

  • Mitochondrial DNA (mtDNA) alterations are implicated in cancer development.
  • Gliomas are a common type of brain cancer, but the role of mtDNA alterations in their progression is not fully understood.

Purpose of the Study:

  • To investigate the profile of somatic mtDNA mutations across different grades of gliomas.
  • To correlate these mtDNA alterations with the clinical characteristics of glioma patients.

Main Methods:

  • Sequencing of mitochondrial DNA (mtDNA) from 40 glioma tissue samples and matched blood.
  • Histopathological confirmation of all glioma samples.

Main Results:

  • Somatic mtDNA mutations were identified in approximately 75% of gliomas.
  • 45% of the detected mtDNA mutations were classified as pathogenic.
  • Mutations were distributed throughout the mtDNA genome, frequently affecting genes in mitochondrial respiratory chain complexes I and IV.

Conclusions:

  • Somatic mtDNA mutations are prevalent in gliomas and can be pathogenic.
  • The identified mutation patterns may influence mitochondrial function and cellular metabolism in gliomas.
  • Further research into mitochondrial energetics and metabolomics in gliomas is warranted.