Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Fang, Hezhi ^a   Shi, Hao ^a   Li, Xiyuan ^b   Sun, Dayan ^a   Li, Fengjie ^a   Li, Bin ^a   Ding, Yuan ^b   Ma, Yanyan ^b   Liu, Yupeng ^b   Zhang, Yao ^b   Shen, Lijun ^a   Bai, Yidong ^c   Yang, Yanling ^b   Lu, Jianxin ^b  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b PEKING UNIVERSITY FIRST HOSPITAL   (China)

^c University of Texas Health Science Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL PROTEIN; MULTIENZYME COMPLEX; ND5 PROTEIN, HUMAN; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

BRAIN; CASE REPORT; CHILD; DIAGNOSTIC IMAGING; EXERCISE; FEMALE; GENETICS; HUMAN; METABOLISM; MISSENSE MUTATION; MITOCHONDRIAL DISEASES; MITOCHONDRION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; PEDIGREE; RADIOGRAPHY; REAL TIME POLYMERASE CHAIN REACTION;

ADENOSINE TRIPHOSPHATE; BASE SEQUENCE; BRAIN; CHILD; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; ELECTRON TRANSPORT COMPLEX I; EXERCISE; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; OXIDATIVE PHOSPHORYLATION; OXYGEN CONSUMPTION; PEDIGREE; RADIOGRAPHY; REACTIVE OXYGEN SPECIES; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84934880866     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep10480     Document Type: Article

References (38)

1. Wallace, D. C. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annual review of genetics 39, 359-407, doi:10.1146/annurev.genet.39.110304.095751 (2005).
2. Schon, E. A., DiMauro, S. & Hirano, M. Human mitochondrial DNA: roles of inherited and somatic mutations. Nature reviews. Genetics 13, 878-890, doi:10.1038/nrg3275 (2012).
3. Nouws, J., Nijtmans, L. G., Smeitink, J. A. & Vogel, R. O. Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options. Brain: a journal of neurology 135, 12-22, doi:10.1093/brain/awr261 (2012).
4. Skladal, D., Halliday, J. & Thorburn, D. R. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain: a journal of neurology 126, 1905-1912, doi:10.1093/brain/awg170 (2003).
5. Hirst, J. Mitochondrial complex I. Annual review of biochemistry 82, 551-575, doi:10.1146/annurev-biochem-070511-103700 (2013).
6. Baradaran, R., Berrisford, J. M., Minhas, G. S. & Sazanov, L. A. Crystal structure of the entire respiratory complex I. Nature 494, 443-448, doi:10.1038/nature11871 (2013).
7. Perales-Clemente, E. et al. Five entry points of the mitochondrially encoded subunits in mammalian complex I assembly. Molecular and cellular biology 30, 3038-3047, doi:10.1128/MCB.00025-10 (2010).
8. Swalwell, H. et al. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. European journal of human genetics: EJHG 19, 769-775, doi:10.1038/ejhg.2011.18 (2011).
9. Lazarou, M., Thorburn, D. R., Ryan, M. T. & McKenzie, M. Assembly of mitochondrial complex I and defects in disease. Biochimica et biophysica acta 1793, 78-88, doi:10.1016/j.bbamcr.2008.04.015 (2009).
10. Wray, C. D. et al. A new mutation in MT-ND1 m.3928G > C p.V208L causes Leigh disease with infantile spasms. Mitochondrion 13, 656-661, doi:10.1016/j.mito.2013.09.004 (2013).
11. Malfatti, E. et al. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain: a journal of neurology 130, 1894-1904, doi:10.1093/brain/awm114 (2007).
12. Ugalde, C. et al. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Annals of neurology 54, 665-669, doi:10.1002/ana.10734 (2003).
13. Kirby, D. M. et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS. Journal of medical genetics 41, 784-789, doi:10.1136/jmg.2004.020537 (2004).
14. Dunning, C. J. et al. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. The EMBO journal 26, 3227-3237, doi:10.1038/sj.emboj.7601748 (2007).
15. Spyropoulos, A. et al. Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy. JAMA neurology 70, 1552-1555, doi:10.1001/jamaneurol.2013.4111 (2013).
16. Taylor, R. W., Taylor, G. A., Morris, C. M., Edwardson, J. M. & Turnbull, D. M. Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood. Biochemical and biophysical research communications 251, 883-887, doi:10.1006/bbrc.1998.9553 (1998).
17. Downham, E. et al. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular disorders: NMD 18, 310-314, doi:10.1016/j.nmd.2008.01.003 (2008).
18. Diaz, F., Fukui, H., Garcia, S. & Moraes, C. T. Cytochrome c oxidase is required for the assembly/stability of respiratory complex I in mouse fibroblasts. Molecular and cellular biology 26, 4872-4881 (2006).
19. Li, Y. F. et al. An assembled complex IV maintains the stability and activity of complex I in mammalian mitochondria. Journal of Biological Chemistry 282, 17557-17562 (2007).
20. Jones, R. P. O., Durose, L. J., Findlay, J. B. C. & Harrison, M. A. Defined sites of interaction between subunits E (Vma4p), C (Vma5p), and G (Vma10p) within the stator structure of the vacuolar H+-ATPase. Biochemistry 44, 3933-3941 (2005).
21. Gattermann, N. et al. Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia. Blood 90, 4961-4972 (1997).
22. Perales-Clemente, E. et al. Five Entry Points of the Mitochondrially Encoded Subunits in Mammalian Complex I Assembly. Molecular and Cellular Biology 30, 3038-3047, doi:Doi 10.1128/Mcb.00025-10 (2010).
23. Andrews, B., Carroll, J., Ding, S., Fearnley, I. M. & Walker, J. E. Assembly factors for the membrane arm of human complex I. Proceedings of the National Academy of Sciences of the United States of America 110, 18934-18939, doi:10.1073/pnas.1319247110 (2013).
24. Bai, Y., Shakeley, R. M. & Attardi, G. Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria. Mol Cell Biol 20, 805-815 (2000).
25. Cardol, P. et al. In Chlamydomonas, the loss of ND5 subunit prevents the assembly of whole mitochondrial complex I and leads to the formation of a low abundant 700 kDa subcomplex. Biochimica et biophysica acta 1777, 388-396, doi:10.1016/j. bbabio.2008.01.001 (2008).
26. Blok, M. J. et al. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet 44, e74, doi:10.1136/jmg.2006.045716 (2007).
27. Mayorov, V., Biousse, V., Newman, N. J. & Brown, M. D. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. Ann Neurol 58, 807-811, doi:10.1002/ana.20669 (2005).
28. Corona, P. et al. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 49, 106-110 (2001).
29. Naini, A. B. et al. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol 62, 473-476, doi:10.1001/archneur.62.3.473 (2005).
30. Shanske, S. et al. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol 65, 368-372, doi:10.1001/archneurol.2007.67 (2008).
31. Birch-Machin, M. A. & Turnbull, D. M. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Methods in cell biology 65, 97-117 (2001).
32. Chomyn, A. et al. Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals-and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers. American journal of human genetics 54, 966-974 (1994).
33. Sambrook, J. & Russell, D. W. Molecular cloning: a laboratory manual. (Cold Spring Harbor Laboratory Press, 2001).
34. Rieder, M. J., Taylor, S. L., Tobe, V. O. & Nickerson, D. A. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic acids research 26, 967-973 (1998).
35. Bai, Y. & Attardi, G. The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme. The EMBO journal 17, 4848-4858, doi:10.1093/emboj/17.16.4848 (1998).
36. Park, J. S. et al. A heteroplasmic, not homoplasmic, mitochondrial DNA mutation promotes tumorigenesis via alteration in reactive oxygen species generation and apoptosis. Hum Mol Genet 18, 1578-1589, doi:10.1093/hmg/ddp069 (2009).
37. Fernandez-Vizarra, E. et al. Isolation of mitochondria for biogenetical studies: An update. Mitochondrion 10, 253-262, doi:10.1016/j.mito.2009.12.148 (2010).
38. Wittig, I., Braun, H. P. & Schagger, H. Blue native PAGE. Nature protocols 1, 418-428, doi:10.1038/nprot.2006.62 (2006).