A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

Mitochondrion

Volumn 9, Issue 5, 2009, Pages 346-352

  Fragaki, Konstantina ^a,b   Procaccio, Vincent ^c   Bannwarth, Sylvie ^a,b   Serre, Valérie ^d   O'Hearn, Sean ^c   Potluri, Prasanth ^c   Augé, Gaelle ^a   Casagrande, Florence ^a   Caruba, Céline ^e   Lambert, Jean Claude ^a   Paquis Flucklinger, Véronique ^a,b  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e PASTEUR HOSPITAL   (France)

Author keywords

Cytochrome b; Homoplasmic mutation; Mitochondrial DNA; Neonatal disease; Respiratory chain defect

Indexed keywords

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

AMINOACIDURIA; ARTICLE; CASE REPORT; CELL LINE; CLINICAL FEATURE; COMPLEX III DEFICIENCY; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; FIBROBLAST CULTURE; GENE MUTATION; GENETIC DISORDER; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOBLOTTING; LACTIC ACIDOSIS; LIVER BIOPSY; LIVER FAILURE; MALE; MUSCLE BIOPSY; NEWBORN; NUCLEOTIDE SEQUENCE; OXYGEN CONSUMPTION; PATHOGENICITY; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYVISCERAL FAILURE; PRIORITY JOURNAL; SKELETAL MUSCLE; SPECTROPHOTOMETRY; WESTERN BLOTTING;

ADULT; CHILD; CYTOCHROMES B; DNA, MITOCHONDRIAL; HUMANS; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; MULTIPLE ORGAN FAILURE; MUTATION, MISSENSE; POINT MUTATION; YOUNG ADULT;

EID: 70149083472     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2009.06.002     Document Type: Article

References (40)

1. Achilli A., Rengo C., Battaglia V., Pala M., Olivieri A., Fornarino S., Magri C., Scozzari R., Babudri N., Santachiara-Benecetti A.S., Bandelt H.-J., Semino O., and Torroni A. Saami and Berbers - an unexpected mitochondrial DNA link. Am. J. Hum. Genet. 76 (2005) 883-886
2. Acin-Pérez R., Bayona-Bafaluy M., Fernandez-Silva P., Pérez-Martos A., Bruno C., Moraes C., and Enriquez J. Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol. Cell. 13 (2005) 805-815
3. Andreu A., Bruno C., Dunne T., Tanji K., Shanske S., Sue C., Krishna S., Hadjigeorgiou G., Shtilbans A., Bonilla E., et al. A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria. Ann. Neurol. 45 (1999) 127-130
4. Andreu A., Hanna M., Reichmann H., Bruno C., Penn A., Tanji K., Pallotti F., Iwata S., Bonilla E., Lach B., et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N. Engl. J. Med. 341 (1999) 1037-1044
5. Andreu A., Checcarelli N., Iwata S., Shanske S., and DiMauro S. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediatr. Res. 48 (2000) 311-314
6. Andrews R., Kubacka I., Chinnery P., Lightowlers R., Turnbull D., and Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat. Genet. 23 (1999) 147
7. Arnold K., Bordoli L., Kopp J., and Scwedde T. The SWISS-MODEL Workspace: a web-based environment for protein structure homology modeling. Bioinformatics 22 (2006) 195-201
8. Bannwarth S., Procaccio V., Rouzier C., Fragaki K., Poole J., Chabrol B., Desnuelle C., Pouget J., Azulay J., Attarian S., et al. Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders using Surveyor strategy. Mitochondrion 8 (2008) 136-145
9. Blakely A., Mitchell A., Fisher N., Meunier B., Nijtmans L., Schaefer A., Jackson M., Turnbull D., and Taylor R. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS J. 272 (2005) 3583-3592
10. Borisov V. Defects in mitochondrial respiratory complexes III and IV, and human pathologies. Mol. Aspects Med. 23 (2002) 385-412
11. Bourdon A., Minai A., Serre V., Jais J., Sarzi E., Aubert S., Chretien D., de Lonlay P., Paquis-Flucklinger V., Arakawa H., et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat. Genet. 39 (2007) 776-780
12. Bouzidi M., Carrier H., and Godinot C. Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation. Biochem. Biophys. Acta 1317 (1996) 199-209
13. Bradford M. A rapid and sensitive method for the quantitation of micrograms quantities of protein utilizing the principle of protein-dye binding. Annal. Biochem. 251 (1976) 69-72
14. Bruno C., Santorelli F., Assereto S., Tonoli E., Tessa A., Traverso M., Scapolan S., Bado M., Tedeschi S., and Minetti C. Progressive exercise intolerance associated with a new muscle restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Muscle Nerve 28 (2003) 508-511
15. Chretien D., Rustin P., Bourgeron T., Rotig A., Saudubray J., and Munnich A. Reference charts for respiratory chain activities in human tissues. Clin. Chim. Acta. 228 (1994) 53-70
16. de Coo I., Renier W., Ruitenbeek W., Ter Laak H., Bakker M., Schagger H., Van Oost B., and Smeets H. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with Parkinsonism/MELAS overlap syndrome. Annal. Neurol. 45 (1999) 130-133
17. de Lonlay P., Valnot I., Barrientos A., Gorbatyuk M., Tzagoloff A., Taanman J., Benayoun E., Chretien D., Kadhom N., Lombes A., 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
18. Gao X., Wen X., Esser L., Quinn B., Yu L., Yu C., and Xia D. Structural basis for the quinone reduction in the bc 1 complex: a comparative analysis of crystal structures of mitochondrial cytochrome bc 1 with bound substrate and inhibitors at the Qi site. Biochemistry 42 (2003) 9067-9080
19. Guex N., and Peitsch M. SWISS-MODEL and the Swiss-Pdb Viewer: an environment for comparative protein modeling. Electrophoresis 18 (1997) 2714-2723
20. Haut S., Brivet M., Touati G., Rustin P., Lebon S., Garcia-Cazoria A., Saudubray J., Boutron A., Legrand A., and Slama A. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycemia and lacic acidosis. Hum. Genet. 113 (2003) 118-122
21. Ingman M., and Gyllensten U. mtDB: human mitochondrial genome database, a resource for population genetics and medical science. Nucl. Acids Res. 34 (2006) D749-D751
22. Keightley J., Anitori R., Burton M., Quan F., Buist N., and Kennaway N. 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
23. King M., and Attardi G. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246 (1989) 500-503
24. Lamantea E., Carrara F., Mariotti C., Morandi L., Tiranti V., and Zeviani M. A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromusc. Disord. 12 (2002) 49-52
25. Legros F., Chatzoglou E., Frachon P., Ogier de Baulny H., Laforet P., Jardel C., Godinot C., and Lombes A. Functional characterization of novel mutations in the human cytochrome b gene. Eur. J. Hum. Genet. 9 (2001) 510-518
26. Mancuso M., Filosto M., Stevens J., Patterson M., Shanske S., Krishna S., and DiMauro S. Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene. J. Neur. Sci. 209 (2003) 61-63
27. Ruiz-Pesini E., Mishmar D., Brandon M., Procaccio V., and Wallace D. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303 (2004) 223-226
28. Ruiz-Pesini E., Lott M., Procaccio V., Poole J., Brandon M., Mishmar D., Yi C., Kreuziger J., Baldi P., and Wallace D. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucl. Acids Res. 35 (2007) D823-D828
29. Rustin P., Chretien D., Bourgeron T., Gerard B., Rotig A., and Saudubray J. Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chem. Acta 228 (1994) 31-51
30. Schuelke M., Krude H., Finckh B., Mayatepek E., Janssen A., Schmelz M., Trefz F., Trijbels F., and Smeitink J. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann. Neurol. 51 (2002) 388-392
31. Schwede T., Kopp J., and Guex N. SWISS-MODEL: an automated protein homology-modeling server. Nucl. Acids Res. 31 (2003) 3381-3385
32. Shagger H. In: Pon L., and Schon E.A. (Eds). Mitochondria (2001), Academic Press, San Diego, CA 31-244
33. Shagger H., Brandt U., Gencic S., and van Jagow G. Ubiquinol-cytochrome c reductase from human and bovine mitochondria. Methods Enzymol. 260 (1995) 82-96
34. Tarnopolsky M., Simon D., Roy B., Chorneyko K., Lowther S., Johns D., Sandhu J., Li Y., and Sikorska M. Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a novel cytochrome b mutation. Muscle Nerve 29 (2004) 537-547
35. Torroni A., Huoponen K., Francalacci P., Petrozzi M., Morelli L., Scozzari R., Obinu D., Savontaus M., and Wallace D. Classification of european mtDNAs from an analysis of three European populations. Genetics 144 (1996) 1335-1350
36. Trounce I., Neill S., and Wallace D. Cytoplasmic transfer of the mtDNA nt 8993 T->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cellsok demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc. Natl. Acad. Sci. 91 (1994) 8334-8338
37. Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., and Rotig A. 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
38. Wibrand F., Ravn K., Schwartz M., Rosenberg T., Horn N., and Vissing J. Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Annal. Neurol. 50 (2001) 540-543
39. Witting I., Braun H., and Schagger H. Blue native PAGE. Nat. Protocols 1 (2006) 418
40. Yadava N., Potluri P., Smith E., Bivesac A., and Scheffler I. Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I. J. Biol. Chem. 277 (2002) 21221-21230