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Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence

(2010) ACTA MYOLOGICA. 29. p.235-235
Author
Organization
Abstract
Recently, TMEM70 has been 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 onset and severity of clinical symptoms. Oxidative phosphorylation (OXPHOS) enzyme activities were measured using spectrophotometrical analysis. Functional integrity of the five complexes was evaluated using blue native polyacrylamide gel electrophoresis (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. 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. 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.

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MLA
Van Coster, Rudy, et al. “Mutations in TMEM70, a Gene Coding for an Assembly Factor of Complex V, Can Cause a Severe Encephalocardiomyopathy in the Neonatal Period as Wel as Mild Non-Progressive Encephalopathy in Adolescence.” ACTA MYOLOGICA, vol. 29, Pacini Editore, 2010, pp. 235–235.
APA
Van Coster, R., Smet, J., Lissens, W., De Paepe, B., Seneca, S., De Meirleir, L., … Evangeliou, A. (2010). Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence. ACTA MYOLOGICA, 29, 235–235. Pisa, Italy: Pacini Editore.
Chicago author-date
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, a Gene Coding for an Assembly Factor of Complex V, Can Cause a Severe Encephalocardiomyopathy in the Neonatal Period as Wel as Mild Non-Progressive Encephalopathy in Adolescence.” In ACTA MYOLOGICA, 29:235–235. Pisa, Italy: Pacini Editore.
Chicago author-date (all authors)
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, a Gene Coding for an Assembly Factor of Complex V, Can Cause a Severe Encephalocardiomyopathy in the Neonatal Period as Wel as Mild Non-Progressive Encephalopathy in Adolescence.” In ACTA MYOLOGICA, 29:235–235. Pisa, Italy: Pacini Editore.
Vancouver
1.
Van Coster R, Smet J, Lissens W, De Paepe B, Seneca S, De Meirleir L, et al. Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence. In: ACTA MYOLOGICA. Pisa, Italy: Pacini Editore; 2010. p. 235–235.
IEEE
[1]
R. Van Coster et al., “Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence,” in ACTA MYOLOGICA, Naples, Italy, 2010, vol. 29, pp. 235–235.
@inproceedings{1231436,
  abstract     = {{Recently, TMEM70 has been 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 onset and severity of clinical symptoms. Oxidative phosphorylation (OXPHOS) enzyme activities were measured using spectrophotometrical analysis. Functional integrity of the five complexes was evaluated using blue native polyacrylamide gel electrophoresis (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. 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. 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, Joél and Lissens, Willy and De Paepe, Boel and Seneca, Sara and De Meirleir, Linda and Spilioti, Martha and Xenophon, Fitsioris and Evangeliou, Athanasios}},
  booktitle    = {{ACTA MYOLOGICA}},
  issn         = {{1128-2460}},
  language     = {{eng}},
  location     = {{Naples, Italy}},
  pages        = {{235--235}},
  publisher    = {{Pacini Editore}},
  title        = {{Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence}},
  volume       = {{29}},
  year         = {{2010}},
}