A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

FEBS Journal

Volumn 272, Issue 14, 2005, Pages 3583-3592

  Blakely, Emma L ^a   Mitchell, Anna L ^a   Fisher, Nicholas ^b   Meunier, Brigitte ^b   Nijtmans, Leo G ^c   Schaefer, Andrew M ^a   Jackson, Margaret J ^d   Turnbull, Douglass M ^a   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

Complex I; Complex III; Cytochrome b; Mitochondrial DNA (mtDNA); Yeast mutants

Indexed keywords

CYTOCHROME B; FUNGAL ENZYME; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

AMINO ACID SUBSTITUTION; ARTICLE; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXERCISE TOLERANCE; GENE MUTATION; HUMAN; HUMAN TISSUE; MOLECULAR MODEL; MUSCLE BIOPSY; MUSCLE CONTRACTION; NONHUMAN; PATHOGENICITY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE; STEADY STATE; WESTERN BLOTTING;

ADULT; AMINO ACID SEQUENCE; ANIMALS; ARGININE; BASE SEQUENCE; BIOPSY; CYTOCHROMES B; DNA, MITOCHONDRIAL; FEMALE; GUANIDINE; HUMANS; MITOCHONDRIAL DISEASES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN SUBUNITS; SACCHAROMYCES CEREVISIAE;

EID: 22544468499     PISSN: 1742464X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2005.04779.x     Document Type: Article

References (37)

1. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F et al. (1981) Sequence and organization of the human mitochondrial genome. Nature 290, 457-465.
2. Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA & Turnbull DM (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48, 188-193.
3. DiMauro S & Schon EA (2003) Mitochondrial respiratory-chain diseases. New Engl J Med 348, 2656-2668.
4. Taylor RW & Turnbull DM (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6, 389-402.
5. McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW & Thorburn DR (2004) De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann Neurol 55, 58-64.
6. Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR & Taylor RW (2004) Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med Genet 41, 784-789.
7. MITOMAP (2005) A Human Mitochondrial Genome Database http://www.mitomap. org.
8. Keightley JA, Anitori R, Burton MD, Quan F, Buist NR & Kennaway NG (2000) Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 67, 1400-1410.
9. De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, Schägger H, Van Oost BA & Smeets HJ (1999) A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol 45, 130-133.
10. Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J, Rustin P & Rötig A (1999) A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. Hum Genet 104, 460-466.
11. Andreu AL, Checcarelli N, Iwata S, Shanske S & DiMauro S (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr Res 48, 311-314.
12. Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, Schmelz M, Trefz F, Trijbels F & Smeitink J (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol 51, 388-392.
13. Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N & Vissing J (2001) Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Ann Neurol 50, 540-543.
14. Dumoulin R, Sagnol I, Ferlin T, Bozon D, Stepien G & Mousson B (1996) A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol Cell Probes 10, 389-391.
15. Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH & DiMauro S (1998) Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy. Neurology 51, 1444-1447.
16. Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J & DiMauro S (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. New Engl J Med 341, 1037-1044.
17. Andreu AL, Bruno C, Dunne TC, Tanji K, Shanske S, Sue CM, Krishna S, Hadjigeorgiou GM, Shtilbans A, Bonilla E & DiMauro S (1999) A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann Neurol 45, 127-130.
18. Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V & Zeviani M (2002) A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 12, 49-52.
19. Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverse M, Scapolan S, Bado M, Tedeschi S & Minetti C (2003) Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Muscle Nerve 28, 508-511.
20. Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S & DiMauro S (2003) Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. J Neurol Sci 209, 61-63.
21. Fisher N, Castleden CK, Bourges I, Brasseur G, Dujardin G & Meunier B (2004) Human disease-related mutations in cytochrome b studied in yeast. J Biol Chem 279, 12951-12958.
22. 1 complex owing to a human disease-associated mutation within cytochrome b. Eur J Biochem 271, 1292-1298.
23. Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM & Smeitink JA (2000) Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun 275, 63-68.
24. Acin-Perez R, Bayona-Bafaluy MP, Fernandez-Silva P, Moreno-Loshuertos R, Perez-Martos A, Bruno C, Moraes CT & Enriquez JA (2004) Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol Cell 13, 805-815.
25. Schägger H & Pfeiffer K (2000) Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J 19, 1777-1783.
26. Taylor RW, Schaefer AM, Barron MJ, McFarland R & Turnbull DM (2004) The diagnosis of mitochondrial muscle disease. Neuromuscul Disord 14, 237-245.
27. Hirokawa T, Seah BC & Mitaku S (1998) SOSUI: Classification and secondary structure prediction system for membrane proteins. Bioinformatics 14, 378-379.
28. Fisher N & Meunier B (2001) Effects of mutations in mitochondrial cytochrome b in yeast and man: deficiency, compensation and disease. Eur J Biochem 268, 1155-1162.
29. Lemesle-Meunier D, Brivet-Chevillotte P, di Rago J-P, Slonimski PP, Bruel C, Tron T & Forget N (1993) Cytochrome b-deficient mutants of the ubiquinol-cytochrome c oxidoreductase in Saccharomyces cerevisiae. J Biol Chem 268, 15626-15632.
30. Bianchi C, Genova ML, Parenti Castelli G & Lenaz G (2004) The mitochondrial respiratory chain is partially organized in a supercomplex assembly: kinetic evidence using flux control analysis. J Biol Chem 279, 36562-36569.
31. Old SL & Johnson MA (1989) Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J 21, 545-555.
32. Taylor RW & Turnbull DM (1997) Laboratory diagnosis of mitochondrial disease. In Organelle Diseases (Applegarth, DA, Dimmick, J & Hall, JG, eds), pp. 341-350. Chapman & Hall, London.
33. Taylor RW, Taylor GA, Durham SE & Turnbull DM (2001) The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res 29, e74.
34. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM & Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23, 147.
35. Nijtmans LG, Henderson NS & Holt IJ (2002) Blue Native electrophoresis to study mitochondrial and other protein complexes. Methods 26, 327-334.
36. Meunier B (2001) Site-directed mutations in the mitochondrially encoded subunits I and III of yeast cytochrome oxidase. Biochem J 354, 407-412.
37. Hill P, Kessl JJ, Meshnick SR, Trumpower BL & Meunier B (2003) Antimicrob Agents Chemother 47, 2725-2731.