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Mitochondrial DNA copy number changes, heteroplasmy, and mutations in plasma-derived exosomes and brain tissue of glioblastoma patients.
Soltész, Beáta; Pös, Ondrej; Wlachovska, Zuzana; Budis, Jaroslav; Hekel, Rastislav; Strieskova, Lucia; Liptak, Jana Bozenka; Krampl, Werner; Styk, Jakub; Németh, Nikolett; Keseru, Judit Sz; Jenei, Adrienn; Buglyó, Gergely; Klekner, Álmos; Nagy, Bálint; Szemes, Tomas.
Afiliación
  • Soltész B; Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address: soltesz.beata@med.unideb.hu.
  • Pös O; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia.
  • Wlachovska Z; Comenius University Science Park, Bratislava, Slovakia; Institute of Informatics, Information Systems and Software Engineering, Faculty of Informatics and Information Technologies, Slovak University of Technology in Bratislava, Bratislava, Slovakia.
  • Budis J; Comenius University Science Park, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia; Slovak Centre of Scientific and Technical Information, Bratislava, Slovakia.
  • Hekel R; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia.
  • Strieskova L; Geneton Ltd., Bratislava, Slovakia.
  • Liptak JB; Institute of Informatics, Information Systems and Software Engineering, Faculty of Informatics and Information Technologies, Slovak University of Technology in Bratislava, Bratislava, Slovakia.
  • Krampl W; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia.
  • Styk J; Comenius University Science Park, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia; Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Bratislava, Slovakia.
  • Németh N; Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Keseru JS; Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Jenei A; Department of Neurology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Buglyó G; Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Klekner Á; Department of Neurology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
  • Nagy B; Department of Human Genetics, Faculty of Medicine, University of Debrecen, Debrecen, Hungary; Comenius University Science Park, Bratislava, Slovakia.
  • Szemes T; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia.
Mol Cell Probes ; 66: 101875, 2022 12.
Article en En | MEDLINE | ID: mdl-36379303
Glioblastoma is the most common malignant tumor of the central nervous system (CNS) in adults. Glioblastoma cells show increased glucose consumption associated with poor prognosis. Since mitochondria play a crucial role in energy metabolism, mutations and copy number changes of mitochondrial DNA may serve as biomarkers. As the brain is difficult to access, analysis of mitochondria directly from the brain tissue represents a challenge. Exosome analysis is an alternative (still poorly explored) approach to investigate molecular changes in CNS tumors. We analyzed brain tissue DNA and plasma-derived exosomal DNA (exoDNA) of 44 glioblastoma patients and 40 control individuals. Quantitative real-time PCR was performed to determine mtDNA copy numbers and the Kruskal-Wallis and Mann-Whitney U test were used for statistical analysis of data. Subsequently, sequencing libraries were prepared and sequenced on the MiSeq platform to identify mtDNA point mutations. Tissue mtDNA copy number was different among controls and patients in multiple comparisons. A similar tendency was detected in exosomes. Based on NGS analysis, several mtDNA point mutations showed slightly different frequencies between cases and controls, but the clinical relevance of these observations is difficult to assess and likely less than that of overall mtDNA copy number changes. Allele frequencies of variants were used to determine the level of heteroplasmy (found to be higher in exo-mtDNA of control individuals). Despite the suggested potential, the use of such biomarkers for the screening and/or diagnosis of glioblastomas is still limited, thus further studies are needed.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glioblastoma / Exosomas Límite: Adult / Humans Idioma: En Revista: Mol Cell Probes Asunto de la revista: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Glioblastoma / Exosomas Límite: Adult / Humans Idioma: En Revista: Mol Cell Probes Asunto de la revista: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido