Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II

Molecular Genetics and Metabolism

Volumn 89, Issue 3, 2006, Pages 214-221

  Pagnamenta, Alistair T ^a   Hargreaves, Iain P ^b   Duncan, Andrew J ^a   Taanman, Jan Willem ^c   Heales, Simon J ^b   Land, John M ^b   Bitner Glindzicz, Maria ^a   Leonard, James V ^a   Rahman, Shamima ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b National Hospital   (United Kingdom)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Complex II; G555E; Leigh syndrome; Mitochondrial; Respiratory chain; SDHA; Succinate ubiquinone reductase

Indexed keywords

FLAVOPROTEIN; GLUTAMIC ACID; GLYCINE; MITOCHONDRIAL ENZYME; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPLEX II DEFICIENCY; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENETIC HETEROGENEITY; HETEROPLASMY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; LABORATORY TEST; LEIGH DISEASE; LETHAL MUTANT; MALE; MITOCHONDRIAL GENETICS; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; ELECTRON TRANSPORT COMPLEX II; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HUMANS; HYPOTHALAMUS, MIDDLE; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; PROTEIN SUBUNITS; UBIQUINONE;

EID: 33748963385     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.05.003     Document Type: Article

References (28)

1. Bourgeron T., Rustin P., Chretien D., et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat. Genet. 11 (1995) 144-149
2. Bourgeois M., Goutieres F., Chretien D., et al. Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome. Brain Dev. 14 (1992) 404-408
3. Parfait B., Chretien D., Rotig A., et al. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum. Genet. 106 (2000) 236-243
4. Birch-Machin M.A., Taylor R.W., Cochran B., et al. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann. Neurol. 48 (2000) 330-335
5. Taylor R.W., Birch-Machin M.A., Schaefer J., et al. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. Ann. Neurol. 39 (1996) 224-232
6. Van Coster R., Seneca S., Smet J., et al. Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. Am. J. Med. Genet. 120A (2003) 13-18
7. Horvath R., Abicht A., Holinski-Feder E., et al. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). J. Neurol. Neurosurg. Psychiatry 77 (2006) 74-76
8. Astuti D., Latif F., Dallol A., et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am. J. Hum. Genet. 69 (2001) 49-54
9. Niemann S., and Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat. Genet. 26 (2000) 268-270
10. Baysal B.E., Ferrell R.E., Willett-Brozick J.E., et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287 (2000) 848-851
11. Bayley J.P., Devilee P., and Taschner P.E. The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med. Genet. 16 (2005) 39
12. Clark J.B., Bates T.E., Boakye P., et al. Investigation of mitochondrial defects in brain and skeletal muscle. In: Turner A.J., and Bachelard H.S. (Eds). Neurochemistry: A Practical Approach. Second ed. (1994), Oxford University Press, Oxford 151-174
13. Birch-Machin M., et al. Study of skeletal muscle mitochondrial dysfunction. In: Lash L.H., and Jones D.P. (Eds). Mitochondrial Dysfunction (1993), Academic Press Inc., New York 51-83
14. Krahenbuhl S., Talos C., Wiesmann U., et al. Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans. Clin. Chim. Acta 230 (1994) 177-187
15. Heales S.J.R., Hargreaves I.P., Olpin S.E., et al. Diagnosis of mitochondrial electron transport chain defects in small muscle biopsies. J. Inher. Metab. Dis. 19 Suppl. 1 (1996) 151
16. Boitier E., Degoul F., Desguerre I., et al. A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J. Neurol. Sci. 156 (1998) 41-46
17. Williams S.L., Valnot I., Rustin P., et al. Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. J. Biol. Chem. 279 (2004) 7462-7469
18. Van Coster R., Smet J., George E., et al. Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects. Pediatr. Res. 50 (2001) 658-665
19. Sun F., Huo X., Zhai Y., et al. Crystal structure of mitochondrial respiratory membrane protein complex II. Cell 121 (2005) 1043-1057
20. Birch-Machin M.A., Marsac C., Ponsot G., et al. Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain. Biochem. Biophys. Res. Commun. 220 (1996) 57-62
21. Dipple K.M., and McCabe E.R. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735
22. Dipple K.M., Phelan J.K., and McCabe E.R. Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74 (2001) 45-50
23. Dipple K.M., and McCabe E.R. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 71 (2000) 43-50
24. Tomitsuka E., Hirawake H., Goto Y., et al. Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase). J. Biochem. (Tokyo). 134 (2003) 191-195
25. Vockley J., Rinaldo P., Bennett M.J., et al. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab. 71 (2000) 10-18
26. Scriver C.R., and Waters P.J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15 (1999) 267-272
27. Gottlieb E., and Tomlinson I.P. Mitochondrial tumour suppressors: a genetic and biochemical update. Nat. Rev. Cancer. 5 (2005) 857-866
28. Sriram G., Martinez J.A., McCabe E.R., et al. Single-gene disorders: what role could moonlighting enzymes play?. Am. J. Hum. Genet. 76 (2005) 911-924