Difference between revisions of "Kirches 1998 J Inherit Metab Dis"

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{{Publication
{{Publication
|title=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. Inher. Metabol. Disease 21: 400-408.
|title=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.
|info=[http://www.ncbi.nlm.nih.gov/pubmed/9700597 PMID: 9700597]
|authors=Kirches EJF, Winkler K, Warich-Kirches M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K
|authors=Kirches EJF, Winkler K, Warich-Kirches M, Szibor R, Wien F, Kunz WS, von Bossanyi P, Bajaj PK, Dietzmann K
|year=1998
|year=1998
|journal=J. Inher. Metabol. Disease  
|journal=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.
|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.
|info=[http://www.ncbi.nlm.nih.gov/pubmed/9700597 PMID: 9700597]
|discipline=Biomedicine
}}
}}
{{Labeling
{{Labeling
|discipline=Biomedicine
|organism=Human
|organism=Human
|tissues=Skeletal Muscle
|tissues=Skeletal muscle
|topics=Respiration; OXPHOS; ETS Capacity
|injuries=Mitochondrial disease
|couplingstates=OXPHOS
|instruments=Oxygraph-2k
|instruments=Oxygraph-2k
|discipline=Biomedicine
}}
}}

Latest revision as of 11:22, 23 February 2015

Publications in the MiPMap
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.

» PMID: 9700597

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  Organism: Human  Tissue;cell: Skeletal muscle 


Coupling state: OXPHOS 

HRR: Oxygraph-2k