2009 Vienna - European Society of Human Genetics

Metabolic disorders
been widely used to determine mtDNA content. Nevertheless, this
high sensitive method requires a large number of tissue-specific and
age-matched controls. To bypass the lack of controls, we analyzed the
mtDNA amount in available samples from patients referred to our laboratory
to exclude mitochondrial disease. Specimens with decreased
relative amount of mtDNA compare to other age-matched samples
were selected for mutation screening of candidate genes.
We quantified mtDNA amount by the qRT-PCR as described previously
(Pejznochova, 2008) in almost 200 muscles, 50 liver and 80 cultured-skin
fibroblasts specimens. MtDNA content was expressed as a
copy-number ratio of mtDNA to nuclear DNA. Samples with confirmed
deletion or point mutation in mtDNA were excluded from the analysis.
The relative amount of mtDNA was found to gradually increase during
the first 20 years in both muscle (n=98, r=0.7, p