Complete mitochondrial genome sequence and mutations of the Glioma model inbred C57BL/6 mice strain

Gao, Hongzhi; Wang, Mingxi; Hu, Weipeng; Jun-yan, Chen; Chen, Xiangrong; Li, Gang

doi:10.3109/19401736.2014.971256

Cited by 1 publication

(1 citation statement)

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“…HR is essential for DSB repair during both meiotic recombination and mitotic division [10]. However, the specific involvement of the D-loop in glioblastoma development remains incompletely understood [11][12][13][14][15][16][17][18][19][20][21]. For the purpose of the current study, we decided to choose the D-loop m.16126T>C variant located in the hypervariable region (HV-I), which is characterized by a 100-to 200-fold higher mutation rate than nuclear DNA [22].…”

Section: Introductionmentioning

confidence: 99%

D-Loop Mutations as Prognostic Markers in Glioblastoma—A Pilot Study

Szmyd,

Stanisławska,

Podstawka

et al. 2024

IJMS

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Glioblastoma, a highly aggressive brain tumor, poses significant treatment challenges. A deeper investigation into its molecular complexity is essential for the identification of novel prognostic biomarkers and therapeutic strategies, potentially improving patient outcomes in terms of survival and quality of life. While nuclear DNA mutations have been extensively studied, the role of mitochondrial DNA (mtDNA) mutations, specifically in the D-loop region, remains poorly understood. This prospective case-control study aimed to assess the prognostic significance of the mtDNA D-loop m.16126T>C variant in glioblastoma patients. Immunohistochemistry and droplet digital PCR (ddPCR) were employed for mutation analysis, complemented by statistical analyses and a literature review. The study cohort comprised 22 glioblastoma patients (mean age 59.36 ± 14.17, 12 (54.55%) females), and 25 controls (59.48 ± 13.22, 12 (80%) females). The D-loop m.16126T>C variant was observed in four (18%) of the glioblastoma samples and was associated with shorter median survival (9.5 vs. 18 months; p = 0.016, log-rank test). This study underscores the importance of investigating mtDNA, especially D-loop variants, in glioblastoma, suggesting its potential as a prognostic biomarker and, therefore, its possible therapeutic targets, warranting further exploration.

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