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01-05-2008 | Original Article

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

Authors: Sabine Lutz-Bonengel, Timo Sänger, Walther Parson, Helena Müller, Joachim W. Ellwart, Marie Follo, Bernhard Bonengel, Harald Niederstätter, Marielle Heinrich, Ulrike Schmidt

Published in: International Journal of Legal Medicine | Issue 3/2008

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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Title: Single lymphocytes from two healthy individuals with mitochondrial point heteroplasmy are mainly homoplasmic
Authors: Sabine Lutz-Bonengel
Timo Sänger
Walther Parson
Helena Müller
Joachim W. Ellwart
Marie Follo
Bernhard Bonengel
Harald Niederstätter
Marielle Heinrich
Ulrike Schmidt
Publication date: 01-05-2008
Publisher: Springer-Verlag
Published in: International Journal of Legal Medicine / Issue 3/2008
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-007-0190-6

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

Abstract

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Abstract

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