Mitochondrial complex III deficiencies in the newborn infant

Drug Discovery Today: Disease Mechanisms

Volumn 3, Issue 4, 2006, Pages 421-427

  Fellman, Vineta ^a,b  

^a LUND UNIVERSITY   (Sweden)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; APOTRANSFERRIN; CYTOCHROME B; MITOCHONDRIAL DNA; SERINE; TRANSFER RNA; VITAMIN;

CARDIOMYOPATHY; COMPLEX III DEFICIENCY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXCHANGE BLOOD TRANSFUSION; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC CODE; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; KIDNEY TUBULE DISORDER; LIVER DYSFUNCTION; NEWBORN; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN ASSEMBLY; REVIEW; SYSTEMIC DISEASE;

EID: 33847053331     PISSN: 17406765     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ddmec.2006.11.007     Document Type: Review

References (49)

1. Luft R., et al. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J. Clin. Invest. 41 (1962) 1776-1804
2. Di Mauro S., and Schon E.A. Mechanisms of disease: mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348 (2003) 2656-2668
3. DiMauro S. Mitochondrial medicine. Biochim. Biophys. Acta 1659 (2004) 107-114
4. DiMauro S. Mitochondrial disease. Biochim. Biophys. Acta 1658 (2004) 80-88
5. Gropman A.L. The neurological presentations of childhood and adult mitochondrial disease: established syndromes and phenotypic variations. Mitochondrion 4 (2004) 503-520
6. Thornburn D.R., and Smeitlink J. Diagnosis of mitochondrial disorders: clinical and biochemical approach. J. Inherit. Metab. Dis. 24 (2001) 312-316
7. Uusimaa J., et al. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Pediatrics 114 (2004) 443-450
8. Bernier F.P., et al. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59 (2002) 1406-1411
9. Scaglia F., et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114 (2004) 925-931
10. von Klest-Retzow J.C., et al. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am. J. Hum. Genet. 63 (1998) 428-435
11. Schägger H., et al. Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. Methods Enzymol. 260 (1995) 82-96
12. Xia D., et al. Crystal structure of the cytochrome bc1 complex from bovine heart mitochondria. Science 277 (1997) 60-66
13. D'Aurelio M., et al. Respiratory chain supercomplexes set the threshold for respiration defects in human mtDNA mutant cybrids. Hum. Mol. Genet. 15 (2006) 2157-2169
14. Acin-Perez R., et al. Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol. Cell 13 (2004) 805-815
15. Guzy R.D., et al. Mitochondrial complex III is required for hypoxia-induced ROS production and cellular oxygen sensing. Cell Metab. 1 (2005) 401-408
16. Oskoui M., et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Arch. Neurol. 63 (2006) 1122-1126
17. Rötig A., et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J. Clin. Invest. 86 (1990) 1601-1608
18. Müller-Höckert J., et al. Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. Hum. Pathol. 33 (2002) 247-253
19. Filiano J.J., et al. Mitochondrial DNA depletion in Leigh syndrome. Pediatr. Neurol. 26 (2002) 239-242
20. Feigenbaum A., et al. Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. Am. J. Med. Genet. 140A (2006) 2216-2222
21. Marin-Garcia J., et al. Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. J. Inher. Metab. Dis. 23 (2000) 625-633
22. Ueki I., et al. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis. Mitochondrion 6 (2006) 29-36
23. Odoardi F., et al. Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. Am. J. Med. Genet. 118A (2003) 247-254
24. Dumoulin R., et al. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol. Cell Probes 10 (1996) 389-391
25. Keightley J.A., et al. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am. J. Hum. Genet. 67 (2000) 1400-1410
26. Valnot I., et al. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum. Genet. 104 (1999) 460-466
27. Haut S., et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum. Genet. 113 (2003) 118-122
28. Cruciat C.-M., et al. Bcs1p, an AAAfamily member, is a chaperone for the assembly of the cytochrome bc1 complex. Embo. J. 18 (1999) 226-233
29. Frickey T., and Lupas A.N. Phylogenetic analysis of AAA proteins. J. Struct. Biol. 146 (2004) 2-10
30. Petruzzella V., et al. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54 (1998) 494-504
31. Visapää I., et al. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am. J. Hum. Genet. 4 (2002) 863-876
32. Fellman V., et al. Iron overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. Lancet 351 (1998) 490-493
33. Norio R. Finnish Disease Heritage I: characteristics, causes, background. Hum. Genet. 112 (2003) 441-456
34. Rapola J., et al. Pathology of lethal fetal growth retardation syndrome with, aminoaciduria, iron overload, and lactic acidosis (GRACILE). Pediatr. Pathol. Mol. Med. 21 (2002) 183-193
35. Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. Blood Cell Mol. Dis. 29 (2002) 444-540
36. Morris A.A.M., et al. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr. Nephrol. 9 (1995) 407-411
37. de Lonlay P., et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat. Genet. 29 (2001) 57-60
38. De Meirleir L., et al. Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. Am. J. Med. Genet. 121A (2003) 126-131
39. Brière J.-J., et al. Respiratory chain defects: what do we know for sure about their consequences in vivo?. Biochim. Biophys. Acta 1659 (2004) 172-177
40. Ogashara S., et al. Muscle coenzyme Q deficiency in familial mitochondrial encephalopathy. Proc. Natl. Acad. Sci. 86 (1989) 2379-2382
41. McKenzie M., et al. Mitochondrial respiratory chain supercomplexes are destabilized in Barth syndrome patients. J. Mol. Biol. 361 (2006) 462-469
42. Budde S.M.S., et al. combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem. Biophys. Res. Com. 275 (2000) 63-68
43. Gellerich F.N., et al. The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion 4 (2004) 427-439
44. Chretien D., et al. Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples. Curr. Med. Chem. 11 (2004) 233-239
45. Bénit, P. et al. Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples. Clin. Chim. Acta. (in press, epub)
46. Devreese B., et al. Mass spectrometric identification of mitochondrial oxidative phosphorylation subunits separated by two-dimensional blue-native polyacrylamide gel electrophoresis. Electrophoresis 23 (2002) 2525-2533
47. Fellman V., et al. Exogenous apotransferrin and exchange transfusions in hereditary iron overload disease. Pediatrics 105 (2000) 398-401
48. Smith P.M., et al. Strategies for treating disorders of the mitochondrial genome. Biochim. Biophys. Acta 1659 (2004) 232-239
49. Marin-Gracia J., et al. Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy. J. Inher. Metab. Dis. 20 (1997) 674-680