Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8399082 | Mitochondrion | 2016 | 12 Pages |
Abstract
We developed a multiplex fragment length analysis (MFLA) for clearly assigning mitochondrial haplogroups mostly endemic in Europe for future cardiac diagnostics. As a technical proof, 23 commonly used human cell lines were haplotyped as reference standards. The functional analysis on mtDNA copies per cell revealed no correlation to haplogroups but a relatively high rate of mitochondria per cell and at the same time a very low expression of all mitochondrial and some nuclear encoded mitochondrial related genes. Established MFLA is an easy to handle method for analysing European mitochondrial haplogroups to perform epidemic studies and elucidate correlations to distinct diseases.
Keywords
ribosomal RNAsgDNAMitochondrial haplogroupEMBrRNAsPBMCqPCRtRNAOXPHOSMitochondrial DNAgenomic DNAQuantitative PCRtransfer RNAEndomyocardial biopsyGene expression analysisCell linesmtDNAPeripheral blood mononuclear cellOxidative phosphorylationMitochondriapolymerase chain reactionPCRSingle nucleotide polymorphismSNP
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Authors
Christine Sabine Siegismund, Ingo Schäfer, Peter Seibel, Uwe Kühl, Heinz-Peter Schultheiss, Dirk Lassner,