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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 (2010) JOURNAL OF INHERITED METABOLIC DISEASE. 33(suppl. 3). p.S55-S62
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
published
subject
journal title
JOURNAL OF INHERITED METABOLIC DISEASE
J. Inherit. Metab. Dis.
volume
33
issue
suppl. 3
pages
S55 - S62
Web of Science type
Article
Web of Science id
000209022100009
JCR category
GENETICS & HEREDITY
JCR impact factor
3.808 (2010)
JCR rank
46/154 (2010)
JCR quartile
2 (2010)
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
2015-04-01 14:05:44
@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},
  number       = {suppl. 3},
  pages        = {S55--S62},
  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},
  volume       = {33},
  year         = {2010},
}

Chicago
van der Westhuizen, Francois H, Joél Smet, Oksana Levanets, Madelein Meissner-Roloff, Roan Louw, Rudy Van Coster, and Izelle Smuts. 2010. “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 33 (suppl. 3): S55–S62.
APA
van der Westhuizen, F. H., Smet, J., Levanets, O., Meissner-Roloff, M., Louw, R., Van Coster, R., & Smuts, I. (2010). 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, 33(suppl. 3), S55–S62.
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. 2010;33(suppl. 3):S55–S62.
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 33.suppl. 3 (2010): S55–S62. Print.