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Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.

Francois H van der Westhuizen, Joél Smet UGent, Oksana Levanets, Madelein Meissner-Roloff, Roan Louw, Rudy Van Coster UGent and Izelle Smuts (2013) JOURNAL OF INHERITED METABOLIC DISEASE.
abstract
A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns-Sayre syndrome (KSS). Magnetic resonance imaging (MRI) of the brain revealed normal basal ganglia but bilateral well-circumscribed lesions in the cerebellar peduncles. Enzyme deficiencies in oxidative phosphorylation (OXPHOS) complexes I, IV and V was measured in muscle tissue. Blue native polyacrylamide gel electrophoresis (BN-PAGE) confirmed decreased protein content and activity of these complexes and revealed the presence of two catalytically active complex V sub-complexes. Upon investigation by molecular genetics, the mitochondrial DNA (mtDNA) copy number was found to be elevated and a novel deletion of 3431 bp was found in 80% of muscle mtDNA between positions 7115 and 10546, flanked by a 5 bp direct repeat sequence. In addition, it could also be concluded that the absence of mtDNA-encoded ATPase6 and ATPase8 genes in this patient clearly resulted in aberrant synthesis of ATP synthase.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
in press
subject
journal title
JOURNAL OF INHERITED METABOLIC DISEASE
J. Inherit. Metab. Dis.
JCR category
GENETICS & HEREDITY
JCR impact factor
4.138 (2013)
JCR rank
40/165 (2013)
JCR quartile
1 (2013)
ISSN
0141-8955
DOI
10.1007/s10545-009-9020-y
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
882682
handle
http://hdl.handle.net/1854/LU-882682
date created
2010-02-25 17:53:17
date last changed
2013-07-08 15:29:24
@article{882682,
  abstract     = {A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns-Sayre syndrome (KSS). Magnetic resonance imaging (MRI) of the brain revealed normal basal ganglia but bilateral well-circumscribed lesions in the cerebellar peduncles. Enzyme deficiencies in oxidative phosphorylation (OXPHOS) complexes I, IV and V was measured in muscle tissue. Blue native polyacrylamide gel electrophoresis (BN-PAGE) confirmed decreased protein content and activity of these complexes and revealed the presence of two catalytically active complex V sub-complexes. Upon investigation by molecular genetics, the mitochondrial DNA (mtDNA) copy number was found to be elevated and a novel deletion of 3431 bp was found in 80\% of muscle mtDNA between positions 7115 and 10546, flanked by a 5 bp direct repeat sequence. In addition, it could also be concluded that the absence of mtDNA-encoded ATPase6 and ATPase8 genes in this patient clearly resulted in aberrant synthesis of ATP synthase.},
  author       = {van der Westhuizen, Francois H and Smet, Jo{\'e}l and Levanets, Oksana and Meissner-Roloff, Madelein and Louw, Roan and Van Coster, Rudy and Smuts, Izelle},
  issn         = {0141-8955},
  journal      = {JOURNAL OF INHERITED METABOLIC DISEASE},
  language     = {eng},
  title        = {Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.},
  url          = {http://dx.doi.org/10.1007/s10545-009-9020-y},
  year         = {2013},
}

Chicago
van der Westhuizen, Francois H, Joél Smet, Oksana Levanets, Madelein Meissner-Roloff, Roan Louw, Rudy Van Coster, and Izelle Smuts. 2013. “Aberrant Synthesis of ATP Synthase Resulting from a Novel Deletion in Mitochondrial DNA in an African Patient with Progressive External Ophthalmoplegia.” Journal of Inherited Metabolic Disease.
APA
van der Westhuizen, F. H., Smet, J., Levanets, O., Meissner-Roloff, M., Louw, R., Van Coster, R., & Smuts, I. (2013). Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia. JOURNAL OF INHERITED METABOLIC DISEASE.
Vancouver
1.
van der Westhuizen FH, Smet J, Levanets O, Meissner-Roloff M, Louw R, Van Coster R, et al. Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia. JOURNAL OF INHERITED METABOLIC DISEASE. 2013;
MLA
van der Westhuizen, Francois H, Joél Smet, Oksana Levanets, et al. “Aberrant Synthesis of ATP Synthase Resulting from a Novel Deletion in Mitochondrial DNA in an African Patient with Progressive External Ophthalmoplegia.” JOURNAL OF INHERITED METABOLIC DISEASE (2013): n. pag. Print.