American Journal of Human Genetics, volume 83, issue 4, pages 468-478

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

Sugiana Canny 1
Pagliarini David J. 2, 3
McKenzie Matthew J. 4
KIRBY DENISE M. 5
Salemi Renato 1
Abu-Amero Khaled K 6
Dahl Hans-Henrik M. 7
Hutchison Wendy M 7
Vascotto Katherine A 1
Smith Stacey L. 1
Newbold Robert F. 8
Christodoulou John 9
Calvo Sarah E. 2, 3
Mootha Vamsi K. 2, 3
Ryan Michael G 4
Thorburn David R. 5, 10
1
 
Mitochondrial and Metabolic Research Group, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
2
 
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA
3
 
Department of Systems Biology, Harvard Medical School, Boston, MA 02446, USA
4
 
Department of Biochemistry, La Trobe University, Melbourne, VIC 3086, Australia
5
 
Mitochondrial and Metabolic Research Group, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia
7
 
Genetic Hearing Research Group, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia
9
 
Western Sydney Genetics Program, Children's Hospital at Westmead and Disciplines of Paediatrics and Child Health & Genetic Medicine, University of Sydney, NSW 2145, Australia
10
 
Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia
Publication typeJournal Article
Publication date2008-10-11
Quartile SCImago
Q1
Quartile WOS
Q1
Impact factor9.8
ISSN00029297, 15376605
Genetics
Genetics (clinical)
Abstract
Complex I (NADH:ubiquinone oxidoreductase) is the first and largest multimeric complex of the mitochondrial respiratory chain. Human complex I comprises seven subunits encoded by mitochondrial DNA and 38 nuclear-encoded subunits that are assembled together in a process that is only partially understood. To date, mutations causing complex I deficiency have been described in all 14 core subunits, five supernumerary subunits, and four assembly factors. We describe complex I deficiency caused by mutation of the putative complex I assembly factor C20orf7. A candidate region for a lethal neonatal form of complex I deficiency was identified by homozygosity mapping of an Egyptian family with one affected child and two affected pregnancies predicted by enzyme-based prenatal diagnosis. The region was confirmed by microcell-mediated chromosome transfer, and 11 candidate genes encoding potential mitochondrial proteins were sequenced. A homozygous missense mutation in C20orf7 segregated with disease in the family. We show that C20orf7 is peripherally associated with the matrix face of the mitochondrial inner membrane and that silencing its expression with RNAi decreases complex I activity. C20orf7 patient fibroblasts showed an almost complete absence of complex I holoenzyme and were defective at an early stage of complex I assembly, but in a manner distinct from the assembly defects caused by mutations in the assembly factor NDUFAF1. Our results indicate that C20orf7 is crucial in the assembly of complex I and that mutations in C20orf7 cause mitochondrial disease.

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Sugiana C. et al. Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease // American Journal of Human Genetics. 2008. Vol. 83. No. 4. pp. 468-478.
GOST all authors (up to 50) Copy
Sugiana C., Pagliarini D. J., McKenzie M. J., KIRBY D. M., Salemi R., Abu-Amero K. K., Dahl H. M., Hutchison W. M., Vascotto K. A., Smith S. L., Newbold R. F., Christodoulou J., Calvo S. E., Mootha V. K., Ryan M. G., Thorburn D. R. Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease // American Journal of Human Genetics. 2008. Vol. 83. No. 4. pp. 468-478.
RIS |
Cite this
RIS Copy
TY - JOUR
DO - 10.1016/j.ajhg.2008.09.009
UR - https://doi.org/10.1016%2Fj.ajhg.2008.09.009
TI - Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease
T2 - American Journal of Human Genetics
AU - Sugiana, Canny
AU - Pagliarini, David J.
AU - McKenzie, Matthew J.
AU - KIRBY, DENISE M.
AU - Salemi, Renato
AU - Abu-Amero, Khaled K
AU - Dahl, Hans-Henrik M.
AU - Hutchison, Wendy M
AU - Vascotto, Katherine A
AU - Smith, Stacey L.
AU - Newbold, Robert F.
AU - Christodoulou, John
AU - Calvo, Sarah E.
AU - Mootha, Vamsi K.
AU - Ryan, Michael G
AU - Thorburn, David R.
PY - 2008
DA - 2008/10/11 00:00:00
PB - Elsevier
SP - 468-478
IS - 4
VL - 83
PMID - 18940309
SN - 0002-9297
SN - 1537-6605
ER -
BibTex |
Cite this
BibTex Copy
@article{2008_Sugiana
author = {Canny Sugiana and David J. Pagliarini and Matthew J. McKenzie and DENISE M. KIRBY and Renato Salemi and Khaled K Abu-Amero and Hans-Henrik M. Dahl and Wendy M Hutchison and Katherine A Vascotto and Stacey L. Smith and Robert F. Newbold and John Christodoulou and Sarah E. Calvo and Vamsi K. Mootha and Michael G Ryan and David R. Thorburn},
title = {Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease},
journal = {American Journal of Human Genetics},
year = {2008},
volume = {83},
publisher = {Elsevier},
month = {oct},
url = {https://doi.org/10.1016%2Fj.ajhg.2008.09.009},
number = {4},
pages = {468--478},
doi = {10.1016/j.ajhg.2008.09.009}
}
MLA
Cite this
MLA Copy
Sugiana, Canny, et al. “Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease.” American Journal of Human Genetics, vol. 83, no. 4, Oct. 2008, pp. 468-478. https://doi.org/10.1016%2Fj.ajhg.2008.09.009.
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