Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

American Journal of Medical Genetics

Volumn 121 A, Issue 2, 2003, Pages 126-131

  De Meirleir, Linda ^a,f   Seneca, Sara ^b   Damis, Eliane ^c   Sepulchre, Brigitte ^c   Hoorens, Anne ^b   Gerlo, Erik ^b   García Silva, M Teres ^d   Martín Hernandez, Elena ^d   Lissens, Willy ^b   Van Coster, Rudy ^e  

^a Department of Pediatric Neurology ^*  (Belgium)

^b FREE UNIVERSITY OF BRUSSELS   (Belgium)

^c IME Cavell   (Belgium)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^e GHENT UNIVERSITY   (Belgium)

^f VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

Author keywords

Congenital lactic acidosis; Liver cholestasis; Mitochondrial encephalopathy; OXPHOS deficiency; Respiratory chain assembly genes; Toni Fanconi Debr syndrome

Indexed keywords

UBIQUINOL CYTOCHROME C REDUCTASE;

ARTICLE; BCS1L GENE; CASE REPORT; COMPLEX III DEFICIENCY; DIAGNOSTIC TEST; ENZYME DEFICIENCY; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; HUMAN; INFANT; KIDNEY TUBULE DISORDER; LACTIC ACIDOSIS; LIVER DYSFUNCTION; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 10744225420     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20171     Document Type: Article

References (30)

1. Andreu AL, Hanna MG, Reichman 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 of mitochondrial DNA. N Engl J Med 341:1037-1044.
2. Bioulac-Sage P, Parrot-Roulaud F, Mazat JP, Lamireau T, Coquet M, Sandler B, Demarquez JL, Cormier V, Munnich A, Carre M. 1993. Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver, Hepatology 18(4):839-846.
3. Birch-Machin MA, Shepherd IM, Watmough NJ, Sherratt HS, Bartlett K, Darley-Usmar VM, Milligan DW, Welch RJ, Aynsley-Green A, Turnbull DM. 1989. Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain. Pediatr Res 25:553-559.
4. Crivellone MD, Wu MA, Tzagoloff A. 1988. Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2-cytochrome c reductase complex. J Biol Chem 263:14323-14333.
5. Cruciat C-M, Hell K, Folsch H, Neupert W, Stuart R. 1999. Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. EMBO J 18:5226-5233.
6. de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chretien D, Kadhom N, Lombes A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rotig A. 2001. A mutant mitochondrial respiratory chain assembly protein causes complex III in patients with tubulopathy, encephalopathy, and liver failure. Nat Genet 29:57-60.
7. DiMauro S, Servidei S, Zeviani M, DiRocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G, Johnsen SD. 1987. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22:498-506.
8. Fischer JC, Ruitenbeek W, Gabreëls FJM, Janssen AJM, Renier WO, Sengers RCA, Stadhouders AM, ter Laak HJ, Trijbels JM, Veerkamp JH. 1986. A mitochondrial encephalomyopathy: The first case with an established defect at the level of coenzyme Q. Eur J Pediatr 144:441-444.
9. Folsch H, Guiard B, Neupert W, Stuart RA. 1996. Internal targeting signal of the BCS1 protein: A novel mechanism of import into mitochondria. EMBO J 15:479-487.
10. Kennaway NG. 1988. Defects in the cytochrome BC1 complex in mitochondrial diseases. J Bioenerg Biomembr 20:325-352.
11. Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforet P, Jardel C, Godinot C, Lombes A. 2001. Functional characterization of novel mutations in the human cytochrome b gene. Eur J Hum Genet 9:510-518.
12. Morgan-Hughes JA, Darveniza P, Kahn SW, Landon DN, Sherrat RM, Land JM, Clark JB. 1977. A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. Brain 100:617-640.
13. Morris AA, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM. 1995. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatr Nephrol 9:407-411.
14. Mourmans J, Wendel U, Bentlage HACM, Trijbels JMF, Smeitink JAM, deCoo IFM, Gabreels FJ, Sengers RC, Ruitenbeek W. 1997. Clinical heterogeneity in respiratory chain complex III deficiency in childhood. J Neurol Sci 149:111-117.
15. Nobrega FG, Nobrega MP, Tzagoloff A. 1992. BCS1, a novel gene required for the expression of functional Rieske iron-sulfur protein in Saccharomyces cerevisiae. EMBO J 11:3821-3829.
16. Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, DiMauro S, Abitbol M, Marsac C. 2001. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum Mutat 17:374-381.
17. Petruzella V, Tiranti V, Fernandez P, Ianna P, Carrozo R, Zeviani M. 1998. Identification and characterization of human cDNAs specific to BCS1, PET112, SC01, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54:494-504.
18. Robinson BH. 2000. Human cytochrome oxidase deficiency. Pediatr Res 48:581-585.
19. Rubio-Gozalbo ME, Ruitenbeek W, Bentlage HACM, Schagger H, Sengers RCA, Trijbels JMF, ter Laak HJ, Mariman EC, Bakker MM, de Jager J, Smeitink JA. 1997. Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiency of complexes I, II, and IV. Eur J Pediatr 156:931-934.
20. Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray JM, Munnich A. 1994. Biochemical and molecular investigation in respiratory chain deficiencies. Clin Chim Acta 228:35-51.
21. Sottocasa GL, Kuylenstierna B, Ernster L, Bergstrand A. 1967. An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study. Cell Biol 32:415-438.
22. Spiro AJ, Moore CL, Prineas JW, Strasberg PM, Rapin I. 1970. A cytochrome-related inherited disorder of the nervous system and muscle. Arch Neurol 23:103-112.
23. Srere PA. 1969. Citrate synthase. Methods Enzymol 13:3-11.
24. Sue CM, Karadimas C, Checcarelli N, Tanji K, Papdopoulou LC, Palloti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S. 2000. Differential features of patients with mutations in two COX assembly genes, SURF1 and SC02. Ann Neurol 47:589-595.
25. Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J, Rustin P, Rotig 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.
26. Valnot I, Osmond S, Gigarel N, Mehaye B, Amoel J, Comrier-Daire V, Munnich A, Bonnefont JP, Rustin P, Rotig A. 2000. Mutations of the SC01 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 67:1104-1109.
27. Van Coster R, De Meirleir L. 2000. Mitochondrial cytopathies and neuromuscular disorders. Acta Neurol Belg 100:156-161.
28. Van Coster R, Smet J, George E, De Meirleir L, Seneca S, Van Hove J, Sebire G, Verhelst H, De Bleecker J, Van Vlem B, Verloo P, Leroy J. 2001. Blue native polyacrylamide gel electrophoresis: A powerful tool in diagnosis of oxidative phosphorylation defects. Pediatr Res 50:658-665.
29. von Kleist-Retzow JC, Cormier-Daire V, de Lonlay P, Parfait B, Chretien D, Rustin P, Feingold J, Rotig A, Munnich A. 1998. A high rate (20-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet 63:428-435.
30. Zeviani M, Antozzi C. 1997. Mitochondrial disorders. Mol Hum Reprod 3:133-148.