Ghent University Academic Bibliography

Advanced

Mutations in TMEM70 causes severe encephalocardio-myopathy as wel as mild encephalopathy

Rudy Van Coster UGent, Joél Smet UGent, Willy Lissens, Boel De Paepe UGent, Sara Seneca, Linda De Meirleir, Martha Spilioti, Fitsioris Xenophon and Athanasios Evangeliou (2010) JOURNAL OF INHERITED METABOLIC DISEASE. 33(Suppl. 1). p.S85-S85
abstract
Background: Recently, TMEM70 was identified as a novel ancillary factor essential in biogenesis of mammalian complex V. We report clinical, biochemical and genetic data of two unrelated patients with pathogenic mutations in TMEM70. The two patients presented with remarkable difference in age of onset and severity of clinical symptoms.Material and Methods: Oxidative phosphorylation (OXPHOS) enzyme activities were measured using spectrophotometrical analysis. Functional integrity of the five complexes was evaluated using BN-PAGE followed by in-gel activity staining. Western blotting was performed to document amounts of residual protein in the OXPHOS complexes. All coding exons and part of flanking introns of TMEM70 were PCR amplified and sequenced.Results: In one patient, who presented with severe neonatal phenotype, sequencing of TMEM70 showed a homozygous splice site mutation (c.317-2A>G). The adolescent patient with milder symptoms was found to be compound heterozygote for the c.317-2A>G mutation and c.251delC deletion. In the adolescent patient, 3-methylglutaconic acid was detected in urine. Almost complete absence of functional holocomplex V was demonstrated in several tissues from both patients.Conclusions: Complex V deficiency caused by mutations in TMEM70 is apparently not extremely rare. Patients can present with a severe neonatal form, as well as with milder non progressive encephalopathy.
Please use this url to cite or link to this publication:
author
organization
year
type
conference
publication status
published
subject
in
JOURNAL OF INHERITED METABOLIC DISEASE
volume
33
issue
Suppl. 1
pages
S85 - S85
conference name
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM - 2010)
conference location
Istanbul, Turkey
conference start
2010-08-31
conference end
2010-09-03
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/s10545-010-9163-x
language
English
UGent publication?
yes
classification
C3
id
1232943
handle
http://hdl.handle.net/1854/LU-1232943
date created
2011-05-24 11:45:21
date last changed
2016-12-19 15:35:21
@inproceedings{1232943,
  abstract     = {Background: Recently, TMEM70 was identified as a novel ancillary factor essential in biogenesis of mammalian complex V. We report clinical, biochemical and genetic data of two unrelated patients with pathogenic mutations in TMEM70. The two patients presented with remarkable difference in age of onset and severity of clinical symptoms.Material and Methods: Oxidative phosphorylation (OXPHOS) enzyme activities were measured using spectrophotometrical analysis. Functional integrity of the five complexes was evaluated using BN-PAGE followed by in-gel activity staining. Western blotting was performed to document amounts of residual protein in the OXPHOS complexes. All coding exons and part of flanking introns of TMEM70 were PCR amplified and sequenced.Results: In one patient, who presented with severe neonatal phenotype, sequencing of TMEM70 showed a homozygous splice site mutation (c.317-2A{\textrangle}G). The adolescent patient with milder symptoms was found to be compound heterozygote for the c.317-2A{\textrangle}G mutation and c.251delC deletion. In the adolescent patient, 3-methylglutaconic acid was detected in urine. Almost complete absence of functional holocomplex V was demonstrated in several tissues from both patients.Conclusions: Complex V deficiency caused by mutations in TMEM70 is apparently not extremely rare. Patients can present with a severe neonatal form, as well as with milder non progressive encephalopathy.},
  author       = {Van Coster, Rudy and Smet, Jo{\'e}l and Lissens, Willy and De Paepe, Boel and Seneca, Sara and De Meirleir, Linda and Spilioti, Martha and Xenophon, Fitsioris and Evangeliou, Athanasios},
  booktitle    = {JOURNAL OF INHERITED METABOLIC DISEASE},
  issn         = {0141-8955},
  language     = {eng},
  location     = {Istanbul, Turkey},
  number       = {Suppl. 1},
  pages        = {S85--S85},
  title        = {Mutations in TMEM70 causes severe encephalocardio-myopathy as wel as mild encephalopathy},
  url          = {http://dx.doi.org/10.1007/s10545-010-9163-x},
  volume       = {33},
  year         = {2010},
}

Chicago
Van Coster, Rudy, Joél Smet, Willy Lissens, Boel De Paepe, Sara Seneca, Linda De Meirleir, Martha Spilioti, Fitsioris Xenophon, and Athanasios Evangeliou. 2010. “Mutations in TMEM70 Causes Severe Encephalocardio-myopathy as Wel as Mild Encephalopathy.” In Journal of Inherited Metabolic Disease, 33:S85–S85.
APA
Van Coster, R., Smet, J., Lissens, W., De Paepe, B., Seneca, S., De Meirleir, L., Spilioti, M., et al. (2010). Mutations in TMEM70 causes severe encephalocardio-myopathy as wel as mild encephalopathy. JOURNAL OF INHERITED METABOLIC DISEASE (Vol. 33, pp. S85–S85). Presented at the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM - 2010).
Vancouver
1.
Van Coster R, Smet J, Lissens W, De Paepe B, Seneca S, De Meirleir L, et al. Mutations in TMEM70 causes severe encephalocardio-myopathy as wel as mild encephalopathy. JOURNAL OF INHERITED METABOLIC DISEASE. 2010. p. S85–S85.
MLA
Van Coster, Rudy, Joél Smet, Willy Lissens, et al. “Mutations in TMEM70 Causes Severe Encephalocardio-myopathy as Wel as Mild Encephalopathy.” Journal of Inherited Metabolic Disease. Vol. 33. 2010. S85–S85. Print.