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Single lymphocytes from two healthy individuals with mitochondrial point heteroplasmy are mainly homoplasmic

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Abstract

The nature of mitochondrial DNA heteroplasmy is still unclear. It could either be caused by two mitochondrial DNA (mtDNA) haplotypes coexisting within a single cell or by an admixture of homoplasmic cells, each of which contains only one type of mtDNA molecule. To address this question, single lymphocytes were separated by flow cytometry assisted cell sorting and analyzed by cycle sequencing or minisequencing. To attain the required PCR sensitivity, the reactions were carried out on the surface of chemically structured glass slides in a reaction volume of 1–2 μl. In this study, blood samples from two healthy donors showing mitochondrial point heteroplasmy in direct sequencing (195Y and 234R, respectively) were analyzed. Nearly 96% of single lymphocytes tested were found to be in a homoplasmic state, but heteroplasmic cells were also detected. These results suggest that mitochondrial point heteroplasmy in blood may well be mainly due to the mixture of homoplasmic cells.

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Acknowledgements

This research was supported by a grant from the German Research Foundation (LU 1444/1-1). The authors are very grateful to Klaus Geiger, Karin Nispel, and Andreas Würch for cell sorting.

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Authors and Affiliations

  1. Institute of Legal Medicine, Albert Ludwig University Freiburg, Albertstrasse 9, 79104, Freiburg, Germany

    Sabine Lutz-Bonengel, Timo Sänger, Marielle Heinrich & Ulrike Schmidt

  2. Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria

    Walther Parson & Harald Niederstätter

  3. Advalytix AG, Eugen-Sänger-Ring 4, 85649, Brunnthal, Germany

    Helena Müller

  4. GSF-National Research Center for Environment and Health, Institute of Molecular Immunology, Marchioninistrasse. 25, 81377, München, Germany

    Joachim W. Ellwart

  5. Core Facility, Department of Hematology and Oncology, University of Freiburg Medical Center, Freiburg, Germany

    Marie Follo

  6. HLS Offenburg (BTG), Zähringerstrasse 41, 77652, Offenburg, Germany

    Bernhard Bonengel

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  1. Sabine Lutz-Bonengel
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  2. Timo Sänger
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Correspondence to Sabine Lutz-Bonengel.

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Lutz-Bonengel, S., Sänger, T., Parson, W. et al. Single lymphocytes from two healthy individuals with mitochondrial point heteroplasmy are mainly homoplasmic. Int J Legal Med 122, 189–197 (2008). https://doi.org/10.1007/s00414-007-0190-6

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  • DOI: https://doi.org/10.1007/s00414-007-0190-6

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