Document Detail


Single lymphocytes from two healthy individuals with mitochondrial point heteroplasmy are mainly homoplasmic.
MedLine Citation:
PMID:  17922134     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 microl. 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.
Authors:
Sabine Lutz-Bonengel; Timo Sänger; Walther Parson; Helena Müller; Joachim W Ellwart; Marie Follo; Bernhard Bonengel; Harald Niederstätter; Marielle Heinrich; Ulrike Schmidt
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-10-06
Journal Detail:
Title:  International journal of legal medicine     Volume:  122     ISSN:  0937-9827     ISO Abbreviation:  Int. J. Legal Med.     Publication Date:  2008 May 
Date Detail:
Created Date:  2008-04-14     Completed Date:  2008-11-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9101456     Medline TA:  Int J Legal Med     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  189-97     Citation Subset:  IM    
Affiliation:
Institute of Legal Medicine, Albert Ludwig University Freiburg, Albertstrasse 9, 79104 Freiburg, Germany. sabine.lutz-bonengel@uniklinik-freiburg.de
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MeSH Terms
Descriptor/Qualifier:
Adult
DNA Primers
DNA, Mitochondrial / genetics*
Flow Cytometry
Humans
Lymphocytes / physiology*
Polymerase Chain Reaction
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/DNA Primers; 0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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