Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

Molecular Genetics and Metabolism

Volumn 100, Issue 3, 2010, Pages 251-256

  Hoefs, Saskia J G ^a   Skjeldal, Ola H ^b   Rodenburg, Richard J ^a   Nedregaard, Bård ^c   van Kaauwen, Edwin P M ^a   Spiekerkötter, Ute ^d   von Kleist Retzow, Jürgen Christoph ^d   Smeitink, Jan A M ^a   Nijtmans, Leo G ^a   van den Heuvel, Lambert P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Innlandet Hospital Thrust   (Norway)

^c OSLO UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

Author keywords

Assembly; Complex I; NDUFS1; OXPHOS; Residual activity

Indexed keywords

AMINO ACID; PROTEIN NDUFS1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BIOCHEMISTRY; CASE REPORT; CHILD; COMPLEX I DEFICIENCY; ENZYME ACTIVITY; FEMALE; FIBROBLAST CULTURE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; STOP CODON;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAIN; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MUTATION; NADH DEHYDROGENASE; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 77953229314     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.03.015     Document Type: Article

References (21)

1. Saraste M. Oxidative phosphorylation at the fin de siècle. Science 283 (1999) 1488-1493
2. Smeitink J., van den Heuvel L., and DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat. Rev. Genet. 2 (2001) 342-352
3. Pitkanen S., Feigenbaum A., Laframboise R., and Robinson B.H. NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings. J. Inherit. Metab. Dis. 19 (1996) 675-686
4. Loeffen J.L., Smeitink J.A., Trijbels J.M., Janssen A.J., Triepels R.H., Sengers R.C., and van den Heuvel L.P. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects. Hum. Mutat. 15 (2000) 123-134
5. Carroll J., Fearnley I.M., Skehel J.M., Shannon R.J., Hirst J., and Walker J.E. Bovine complex I is a complex of 45 different subunits. J. Biol. Chem. 281 (2006) 32724-32727
6. Brandt U. Energy converting NADH:quinone oxidoreductase (complex I). Annu. Rev. Biochem. 75 (2006) 69-92
7. Smeitink J.A., Loeffen J.L., Triepels R.H., Smeets R.J., Trijbels J.M., and Van den Heuvel L.P. Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art. Hum. Mol. Genet. 7 (1998) 1573-1579
8. Finel M. Organization and evolution of structural elements within complex I. Biochim. Biophys. Acta 1364 (1998) 112-121
9. Benit P., Chretien D., Kadhom N., de Lonlay-Debeney P., Cormier-Daire V., Cabral A., Peudenier S., Rustin P., Munnich A., and Rotig A. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am. J. Hum. Genet. 68 (2001) 1344-1352
10. Martin M.A., Blazquez A., Gutierrez-Solana L.G., Fernandez-Moreira D., Briones P., Andreu A.L., Garesse R., Campos Y., and Arenas J. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch. Neurol. 62 (2005) 659-661
11. Iuso A., Scacco S., Piccoli C., Bellomo F., Petruzzella V., Trentadue R., Minuto M., Ripoli M., Capitanio N., Zeviani M., and Papa S. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex. J. Biol. Chem. 281 (2006) 10374-10380
12. Thorburn D.R. Mitochondrial disorders: prevalence, myths and advances. J. Inherit. Metab. Dis. 27 (2004) 349-362
13. Smeitink J., Sengers R., Trijbels F., and van den Heuvel L. Human NADH:ubiquinone oxidoreductase. J. Bioenerg. Biomembr. 33 (2001) 259-266
14. Janssen A.J., Trijbels F.J., Sengers R.C., Wintjes L.T., Ruitenbeek W., Smeitink J.A., Morava E., van Engelen B.G., van den Heuvel L.P., and Rodenburg R.J. Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin. Chem. 52 (2006) 860-871
15. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic. Acids. Res. 16 (1988) 1215
16. Calvaruso M.A., Smeitink J., and Nijtmans L. Electrophoresis techniques to investigate defects in oxidative phosphorylation. Methods 46 (2008) 281-287
17. Nijtmans L.G., Henderson N.S., and Holt I.J. Blue native electrophoresis to study mitochondrial and other protein complexes. Methods 26 (2002) 327-334
18. van der Knaap S., and Valk J. Magnetic Resonance of Myelination and Myelin Disorders. third ed. (2005), Springer
19. Budde S.M., van den Heuvel L.P., Janssen A.J., Smeets R.J., Buskens C.A., DeMeirleir L., van Coster R., Baethmann M., Voit T., Trijbels J.M., and Smeitink J.A. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem. Biophys. Res. Commun. 275 (2000) 63-68
20. Lazarou M., McKenzie M., Ohtake A., Thorburn D.R., and Ryan M.T. Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I. Mol. Cell. Biol. 27 (2007) 4228-4237
21. Vogel R.O., Dieteren C.E., van den Heuvel L.P., Willems P.H., Smeitink J.A., Koopman W.J., and Nijtmans L.G. Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. J. Biol. Chem. 282 (2007) 7582-7590