Kirches 1998 J Inherit Metab Dis
|Kirches EJF, Winkler K, Warich-Kirches M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K (1998) mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy. J Inherit Metab Dis 21:400-8.|
Abstract: The ratio of mtDNA and a nuclear reference gene was estimated by Southern blotting in the skeletal muscle DNA of a 3-year-old girl who suffered from congenital brain damage, focal epilepsy, hepatomegaly, malabsorption syndrome and severe myopathy. The signal ratio of mtDNA versus 18S rDNA was 22% of the mean value obtained from controls. No major deletions or insertions were found and the MERRF, MELAS and NARP mutations were ruled out. Mitochondrial DNA-encoded enzyme activities and mitochondrial respiration were reduced. The analysis of the NAD(P)H and flavoprotein redox states of intact fibres revealed the presence of mitochondrial dysfunction. In tissue sections a moderate elevation of type I and type II fibre diameter variation was detected, aberrant NADH- and succinate dehydrogenase staining and some ragged red fibres. This suggested that a mitochondrial disorder caused by a decrease in the amount of intact wild-type mtDNA was responsible for the severe myopathy.
Stress:Mitochondrial disease Organism: Human Tissue;cell: Skeletal muscle
Coupling state: OXPHOS