Difference between revisions of "Kirches 1998 J Inherit Metab Dis"
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|organism=Human | |organism=Human | ||
|tissues=Skeletal muscle | |tissues=Skeletal muscle | ||
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|discipline=Biomedicine | |discipline=Biomedicine | ||
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Revision as of 14:36, 15 November 2012
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: 400-408. |
Kirches EJF, Winkler K, Warich-Kirches M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K (1998) J Inher Metabol Disease
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.
Labels:
Stress:Mitochondrial Disease; Degenerative Disease and Defect"Mitochondrial Disease; Degenerative Disease and Defect" is not in the list (Cell death, Cryopreservation, Ischemia-reperfusion, Permeability transition, Oxidative stress;RONS, Temperature, Hypoxia, Mitochondrial disease) of allowed values for the "Stress" property. Organism: Human Tissue;cell: Skeletal muscle
Coupling state: OXPHOS
HRR: Oxygraph-2k