Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies

Prenatal Diagnosis

Volumn 19, Issue 6, 1999, Pages 552-558

  Houštěk, Josef ^a   Klement, Petr ^a,b   Heřmanská, Jana ^a   Antonická, Hana ^a,b   Houšťková, Hana ^b   Stratilová, Leona ^b   Wanders, Ronald J A ^c   Zeman, Jiří ^b  

^a INSTITUTE OF PHYSIOLOGY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Cybrids; Cytochrome c oxidase; Mitochondrial diseases; Prenatal diagnosis

Indexed keywords

CYTOCHROME C OXIDASE;

AMNION CELL; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FETUS; FIBROBLAST; HUMAN; HUMAN CELL; INFANT; LEIGH DISEASE; MALE; NEWBORN; OXIDATIVE PHOSPHORYLATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATE; AMNIOTIC FLUID; CELL NUCLEUS; CELLS, CULTURED; CHILD, PRESCHOOL; CITRATE (SI)-SYNTHASE; CYTOCHROME-C OXIDASE DEFICIENCY; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FATAL OUTCOME; FEMALE; HUMANS; HYBRID CELLS; MALE; MUTATION; OXIDATIVE PHOSPHORYLATION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0344689921     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199906)19:6<552::AID-PD588>3.0.CO;2-C     Document Type: Article

References (40)

1. Attardi G, King MP, Chomin A, Polosa PL. 1991. Novel genetics and molecular approaches to the study of mitochondrial biogenesis and mitochondrial diseases in human cells. Prog Neuropathol 7: 75-92.
2. Bjerrum OL, Schafer-Nielsen C. 1986. Buffer system and transfer parameters for semidry electroblotting with a horizontal apparatus. In: Dunn MJ (ed.) Electrophoresis 86. Weinheim: Verlag Chemie; 315.
3. Bourgeron T, Rustin P, Chretien D, Birch Machin M, Bourgeois M, Viegas-Pequignot E, Munnich A, Rotig A. 1995. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet 11: 144-149.
4. Bradford MM. 1976. A rapid and sensitive metod for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal Biochem 72: 248-254.
5. Harding AE, Holt IJ, Sweeney MG, Brockington M, Davis MB. 1992. Prenatal diagnosis of mitochondrial DNA8993 T→G disease. Am J Hum Genet 50: 629-633.
6. Houstek J, Klement P, Hermanska J, Houstkova H, Hansikova H, van Bogert C, Zeman J. 1995. Altered properties of mitochondrial ATP-synthase in patients with a T→G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA. Biochim Biophys Acta 1271: 349-357.
7. Houstek J, Kopecky J, Rychter Z, Soukup T. 1988. Uncoupling protein in embryonic brown adipose tissue - existence of nonthermogenic and thermogenic mitochondria. Biochim Biophys Acta 935: 19-25.
8. Houstek J, Vizek K, Pavelka S, Kopecky J, Krejcova E, Hermanska J, Cermakova M. 1993. Type II iodothyronine 5′-deiodinase and uncoupling protein in brown adipose tissue of human newborns. J Clin Endocrinol Metab 77: 382-387.
9. Klement P, Nijtmans LGJ, Van den Bogert C, Houstek J. 1995. Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin. Anal Biochem 231: 218-224.
10. Kobayashi Y, Momoi MY, Tominaga K, Momoi T, Nihei K, Yanagisawa M, Kagawa Y, Ohta S. 1990. A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 173: 816-822.
11. Loeffen J, Smeitink J, Triepels R, Smeets R, Schuelke M, Sengers R, Trijbels F, Hamel B. 1998. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 63: 1598-1608.
12. Lombes A, Nakase H, Tritschler HJ, Kadenbach B, Bonilla E, DeVivo DC, Schon EA, DiMauro S. 1991. Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Neurology 41: 491-498.
13. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. 1951. Protein measurement with Folin phenol reagent. J Biol Chem 193: 265-275.
14. Makinen M, Lee CP. 1968. Biochemical studies of skeletal muscle mitochondria: I. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria. Arch Biochem Biophys 126: 75-82.
15. Merante F, Petrova Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, De Braekeleer M, Laframboise R, Gagne R, Robinson BH. 1993. A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay - Lac-Saint-Jean region of Quebec. Am J Hum Genet 53: 481-487.
16. Miyabayashi S, Ito T, Abukawa D, Narisawa K, Tada K, Tanaka M, Ozawa T, Droste M, Kadenbach B. 1987. Immunochemical study in three patients with cytochrome c oxidase deficiency presenting Leigh's encephalomyelopathy. J Inherit Metab Dis 10: 289-292.
17. Moraes CT, Schon EA, DiMauro S, Miranda AF. 1989. Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. Biochem Biophys Res Commun 160: 765-771.
18. Morrissey JH. 1981. Silver stain for proteins in polyacrylamide gels: a modified procedure with enhanced uniform sensitivity. Anal Biochem 117: 307-310.
19. Nijtmans LGJ, Spelbrink JN, van Galen MJM, Zwaan M, Klement P, Van den Bogert C. 1995. Espression and fate of the nuclearly encoded subunits of cytochrome-c oxidase in cultured human cells depleted of mitochondrial gene. Biochim Biophys Acta 1265: 117-126.
20. Poulton J, Marchington DR. 1996. Prospects for DNA-based prenatal diagnosis of mitochondrial disorders. Prenat Diagn 16: 1247-1256.
21. Ruitenbeek W, Sengers RCA, Trijbels JMF, Janssen AJM, Bakker JAJM. 1992. The use of chorionic villi in prenatal diagnosis of mitochondriopathies. J Inherit Metab Dis 15: 303-306.
22. Ruitenbeek W, Wendel U, Hamel BC, Trijbels JM. 1996. Genetic councelling and prenatal diagnosis in disorders of the mitochondrial energy metabolism. J Inherit Metabol Dis 19: 581-587.
23. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular Cloning. Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
24. Schagger H. 1995. Quantification of oxidative phosphorylation enzymes after blue native electrophoresis and two-dimensional resolution: normal complex I protein amounts in Parkinson's disease conflict with reduced catalytic activities. Electrophoresis 16: 763-770.
25. Schagger H, von Jagow G. 1987. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal Biochem 166: 368-379.
26. Schagger H, von Jagow G. 1991. Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal Biochem 199: 223-231.
27. Schon EA, Bonilla E, DiMauro S. 1997. Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr 29: 131-149.
28. Spelbrink JN, van Oost BA, Van den Bogert C. 1994. The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion. Hum Mol Genet 3: 1989-1997.
29. Sperl W, Ruitenbeek W, Kerkhof CMC, Sengers RCA, Trijbels JMF, Guggenbichler JP, Janssen AJM, Bakkeren JAJM. 1990. Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death. Eur J Pediatr 149: 487-492.
30. Srere PA. 1969. Citrate synthase. Methods Enzymol 13: 3-26.
31. Teodosiu DC, Cederblad G, Hultman E. 1991. A sensitive radioisotopic assay of pyruvate dehydrogenase complex in human muscle tissue. Anal Biochem 198: 347-351.
32. Tiranti V, Hoertangel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. 1998. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63: 1609-1621.
33. Tiranti V, Munaro M, Sandona D, Lamantea E, Rimoldi M, DiDonato S, Bisson R, Zeviani M. 1995. Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. Hum Mol Genet 4: 2017-2023.
34. Wanders RJA, Ruiter JP, Wijburg FA. 1993. Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies. Biochim Biophys Acta 1181: 219-222.
35. Wanders RJA, Wijburg FA, Ruiter J, Trijbels JM, Ruitenbeek W, Sengers RC, Bakkeren JA, Feller N. 1992. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose. J Inherit Metab Dis 15: 84-91.
36. Wanders RJA, Ruiter JPN, Wijburg FA, Zeman J, Klement P, Houstek J. 1996. Prenatal diagnosis of systemic disorders of the respiratory chain in cultured chorionic villus fibrolasts by study of ATP-synthesis in digitonin-permeabilized cells. J Inherit Metab Dis 19: 133-136.
37. Wharton DC, Tzagoloff A. 1967. Cytochrome oxidase from beef heart mitochondria. Methods Enzymol 10: 245-253.
38. Williamson JR, Corkey BE. 1969. Fluorometric assays using enzymatic methods. Methods Enzymol 13: 434-513.
39. Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S. 1991. Rapid detection of the A→G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48: 203-211.
40. Zhu Z, Yao J, Johns T, Fu K, De Bie I, Macmillan C, Cuthbert AP, Newbold RF, Wang J, Chevrette M, Brown GK, Shoubridge EA. 1998. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet 20: 337-343.