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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA

Joél Smet UGent, Sara Seneca, Boel De Paepe UGent, Ann Meulemans, HELENE VERHELST UGent, Juliaan Leroy UGent, Linda De Meirleir, Willy Lissens and Rudy Van Coster UGent (2009) ELECTROPHORESIS. 30(20). p.3565-3572
abstract
Complex V, site of the final step in oxidative phosphorylation, uses the proton gradient across the inner mitochondrial membrane for the production of ATP. It is a multi-subunit complex composed of a catalytic domain (F-1) and a membrane domain (F-0) linked by two stalks. Subcomplexes of complex V containing the F, domain have previously been reported in small series of patients. We report the results in tissue samples and/or cultured skin fibroblasts studied by blue native PAGE followed by activity staining in the gel. Catalytically active subcomplexes of complex V were detected in 66 tissues originating from 53 patients. In 29 of the latter (55%), a mitochondrial DNA (mtDNA) defect was identified. Twelve patients had a pathogenic point mutation in a mitochondrial tRNA, one a large mtDNA deletion, 12 showed mtDNA depletion and four had a mutation in the MT-ATP6 gene. We conclude that the presence of subcomplexes of complex V is a valuable indicator in the detection of mtDNA defects.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
keyword
MUSCLE, PATIENT, RESPIRATORY-CHAIN, ATP-SYNTHASE, LACTIC-ACIDOSIS, GENE MUTATION, TRANSLATION, MYOPATHY, DEFICIENCIES, DEFECT
journal title
ELECTROPHORESIS
Electrophoresis
volume
30
issue
20
pages
8 pages
publisher
WILEY-V C H VERLAG GMBH
place of publication
WEINHEIM
Web of Science type
Article
Web of Science id
000271573400010
JCR category
CHEMISTRY, ANALYTICAL
JCR impact factor
3.077 (2009)
JCR rank
13/70 (2009)
JCR quartile
1 (2009)
ISSN
0173-0835
DOI
10.1002/elps.200900213
language
English
UGent publication?
yes
classification
A1
id
802424
handle
http://hdl.handle.net/1854/LU-802424
date created
2009-12-07 13:49:27
date last changed
2015-06-17 11:19:05
@article{802424,
  abstract     = {Complex V, site of the final step in oxidative phosphorylation, uses the proton gradient across the inner mitochondrial membrane for the production of ATP. It is a multi-subunit complex composed of a catalytic domain (F-1) and a membrane domain (F-0) linked by two stalks. Subcomplexes of complex V containing the F, domain have previously been reported in small series of patients. We report the results in tissue samples and/or cultured skin fibroblasts studied by blue native PAGE followed by activity staining in the gel. Catalytically active subcomplexes of complex V were detected in 66 tissues originating from 53 patients. In 29 of the latter (55\%), a mitochondrial DNA (mtDNA) defect was identified. Twelve patients had a pathogenic point mutation in a mitochondrial tRNA, one a large mtDNA deletion, 12 showed mtDNA depletion and four had a mutation in the MT-ATP6 gene. We conclude that the presence of subcomplexes of complex V is a valuable indicator in the detection of mtDNA defects.},
  author       = {Smet, Jo{\'e}l and Seneca, Sara and De Paepe, Boel and Meulemans, Ann and VERHELST, HELENE and Leroy, Juliaan and De Meirleir, Linda and Lissens, Willy and Van Coster, Rudy},
  issn         = {0173-0835},
  journal      = {ELECTROPHORESIS},
  keyword      = {MUSCLE,PATIENT,RESPIRATORY-CHAIN,ATP-SYNTHASE,LACTIC-ACIDOSIS,GENE MUTATION,TRANSLATION,MYOPATHY,DEFICIENCIES,DEFECT},
  language     = {eng},
  number       = {20},
  pages        = {3565--3572},
  publisher    = {WILEY-V C H VERLAG GMBH},
  title        = {Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA},
  url          = {http://dx.doi.org/10.1002/elps.200900213},
  volume       = {30},
  year         = {2009},
}

Chicago
Smet, Joél, Sara Seneca, Boel De Paepe, Ann Meulemans, HELENE VERHELST, Juliaan Leroy, Linda De Meirleir, Willy Lissens, and Rudy Van Coster. 2009. “Subcomplexes of Mitochondrial Complex V Reveal Mutations in Mitochondrial DNA.” Electrophoresis 30 (20): 3565–3572.
APA
Smet, Joél, Seneca, S., De Paepe, B., Meulemans, A., VERHELST, H., Leroy, J., De Meirleir, L., et al. (2009). Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA. ELECTROPHORESIS, 30(20), 3565–3572.
Vancouver
1.
Smet J, Seneca S, De Paepe B, Meulemans A, VERHELST H, Leroy J, et al. Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA. ELECTROPHORESIS. WEINHEIM: WILEY-V C H VERLAG GMBH; 2009;30(20):3565–72.
MLA
Smet, Joél, Sara Seneca, Boel De Paepe, et al. “Subcomplexes of Mitochondrial Complex V Reveal Mutations in Mitochondrial DNA.” ELECTROPHORESIS 30.20 (2009): 3565–3572. Print.