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  Severe depletion of mitochondrial DNA in spinal muscular atrophy

Berger, A., Mayr, J. A., Meierhofer, D., Fötschl, U., Bittner, R., Budka, H., et al. (2003). Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathologica, 105(3), 245-251. doi:10.1007/s00401-002-0638-1.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-8F7F-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-8F80-5
Genre: Journal Article

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Berger.pdf (Publisher version), 285KB
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 Creators:
Berger, Alexandra1, Author
Mayr, Johannes A.1, Author
Meierhofer, David1, 2, Author              
Fötschl, Ulrike1, Author
Bittner, Reginald1, Author
Budka, Herbert1, Author
Grethen, Claude1, Author
Huemer, Michael1, Author
Kofler, Barbara1, Author
Sperl, Wolfgang1, Author
Affiliations:
1Department of Pediatrics, General Hospital Salzburg, Austria, ou_persistent22              
2Mass Spectrometry (Head: David Meierhofer), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479669              

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Free keywords: Spinal muscular atrophy · Neurogenic muscular atrophy · Mitochondrial DNA depletion · Respiratory chain enzymes · Mitochondria
 Abstract: Spinal muscular atrophy (SMA) is a neuromus- cular disorder in childhood leading to a dramatic loss of muscle strength. Functional investigations with high-reso- lution polarography and enzyme measurements of the res- piratory chain revealed lowered activities in muscle tissue of SMA patients. To gain a better understanding of this low energy supply we analyzed the amount of mitochon- drial DNA (mtDNA) in skeletal muscle of 20 unrelated children with genetically proven SMA and 31 controls. Quantitative Southern blot analysis revealed a severe and homogeneous decrease in the content of muscle mtDNA in relation to nuclear DNA in SMA patients (90.3±7.8%), whereas by immunofluorescence no decrease in the num- ber of mitochondria was detected. In addition, a two- to threefold reduction of the nuclear-encoded complex II (succinate dehydrogenase) activity was detected in SMA muscle tissue. Western blot analysis showed a significant reduction of both mitochondrial- and nuclear-encoded cy- tochrome c oxidase subunits. Our results indicate that mtDNA depletion in SMA is a consequence of severe at- rophy, and has to be differentiated by measurement of complex II from an isolated reduction of mtDNA as found in patients with mitochondriocytopathies and the so- called mtDNA depletion syndrome.

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Language(s): eng - English
 Dates: 2002-11-142003-03
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1007/s00401-002-0638-1
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Title: Acta Neuropathologica
  Other : Acta Neuropathol.
Source Genre: Journal
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Publ. Info: Berlin : Springer Verlag
Pages: - Volume / Issue: 105 (3) Sequence Number: - Start / End Page: 245 - 251 Identifier: ISSN: 0001-6322
CoNE: https://pure.mpg.de/cone/journals/resource/954925374814_1