A novel deficiency of mitochondrial ATPase of nuclear origin

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 1967-1974

  Houštek, Josef ^a   Klement, Petr ^a,b   Floryk, Daniel ^a,b   Antonická, Hana ^a,b   Hermanská, Jana ^a   Kalous, Martin ^a   Hansíková, Hana ^b   Houšt'ková, Hana ^b   Chowdhury, Subir K R ^a,b   Rosipal, Štefan ^d   Kmoch, Stanislav ^c   Stratilová, Leona ^b   Zeman, Jirí ^b  

^a INSTITUTE OF PHYSIOLOGY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

^d Hospital in Poprad   (Slovakia)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; CYTOCHROME C OXIDASE; OLIGOMYCIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PYRUVATE DEHYDROGENASE; SULFUR 35;

ARTICLE; CARDIOMEGALY; CASE REPORT; CELL NUCLEUS; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME DEFICIENCY; ENZYME SYNTHESIS; FIBROBLAST CULTURE; HEART; HEART FAILURE; HEPATOMEGALY; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOPRECIPITATION; LACTIC ACIDOSIS; MUSCLE; NEWBORN; NEWBORN DEATH; OSTEOSARCOMA CELL; PRIORITY JOURNAL; RESPIRATORY CHAIN;

ABNORMALITIES, MULTIPLE; ACIDOSIS, LACTIC; ADENOSINE TRIPHOSPHATASES; CARDIOMEGALY; CARRIER PROTEINS; CELL NUCLEUS; CHROMOSOMES, HUMAN; CONSANGUINITY; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FATAL OUTCOME; FETAL GROWTH RETARDATION; FIBROBLASTS; HEART FAILURE, CONGESTIVE; HEPATOMEGALY; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MITOCHONDRIA, HEART; MITOCHONDRIA, LIVER; MITOCHONDRIAL MYOPATHIES; OXIDATIVE PHOSPHORYLATION; PROTON-TRANSLOCATING ATPASES;

EID: 0345035257     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.1967     Document Type: Article

References (51)

1. 0-ATPases. FEBS Lett., 346, 39-43.
2. Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H.L., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roe, B.A., Sanger, F., Schreier, P.H., Smith, A.J.H., Staden, R. and Young, I.G. (1981) Sequence and organization of the human mitochondrial genome. Nature, 290, 457-465.
3. Tatuch, Y., Pagon, R.A., Vlcek, B., Roberts, R., Korson, M. and Robinson, B.H. (1994) The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families. Eur. J. Hum. Genet., 2, 35-43.
4. Holt, I.J., Harding, A.E., Petty, R.K.H. and Morgan-Hughes, J.A. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet., 46, 428-433.
5. Puddu, P., Barboni, P., Mantovani, V., Montagna, P., Cerullo, A., Bragliani, M., Molinotti, C. and Caramazza, R. (1993) Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family. Br. J. Ophthalmol., 77, 84-88.
6. Shoffner, J.M., Fernhoff, P.M., Krawiecki, N.S., Caplan, D.B., Holt, P.J., Koontz, D.A., Takei, Y., Newman, N.J., Ortiz, R.G., Polak, M. et al. (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology, 42, 2168-2174.
7. Ciafaloni, E., Santorelli, F.M., Shanske, S., Deonna, T., Roulet, E., Janzer, C., Pescia, G. and DiMauro, S. (1993) Maternally inherited Leigh syndrome. J. Pediatr., 122, 419-422.
8. de Vries, D.D., van Engelen, B.G., Gabreels, F.J., Ruitenbeek, W. and van Oost, B.A. (1993) A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann. Neurol., 34, 410-412.
9. Tatuch, Y. and Robinson, B.H. (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem. Biophys. Res. Commun., 192, 124-128.
10. Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansikova, H., van den Bogert, C. and 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.
11. 0-ATP synthase from Escherichia coli. A model for human mitochondrial disease. J. Biol. Chem., 268, 12250-12252.
12. De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E. and Desprechins, B. (1995) Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Pediatr. Neurol., 13, 242-246.
13. Dionisi-Vici, C., Seneca, S., Zeviani, M., Fariello, G., Rimoldi, M., Bertini, E. and De Meirleir, L. (1998) Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. J. Inherit. Metab. Dis., 21, 2-8.
14. Thyagarajan, D., Shanske, S., Vazquez Memije, M., De Vivo, D. and DiMauro, S. (1995) A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann. Neurol., 38, 468-472.
15. Lamminen, T., Majander, A., Juvonen, V., Wikstrom, M., Aula, P., Nikoskelainen, E. and Savontous, M.L. (1995) A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy [letter]. Am. J. Hum. Genet., 56, 1238-1240.
16. Kogelnik, A.M., Lott, M.T., Brown, M.D., Navathe, S.B. and Wallace, D.C. (1998) MITOMAP: a human mitochondrial genome database-1998 update. Nucleic Acids Res., 26, 112-115.
17. Nijtmans, L.G., Klement, P., Houstek, J. and van den Bogert, C. (1995) Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases. Biochim. Biophys. Acta, 1272, 190-198.
18. Klement, P., Nijtmans, L.G., Van den Bogert, C. and 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.
19. Schon, E.A., Bonilla, E. and DiMauro, S. (1997) Mitochondrial DNA mutations and pathogenesis. J. Bioenerg. Biomembr., 29, 131-149.
20. +-ATPase in the inner mitochondrial membrane. Eur. J. Biochem., 92, 545-551.
21. +-ATPase. Eur. J. Biochem., 131, 17-24.
22. 1-ATPase. Proc. Natl Acad. Sci. USA, 87, 4986-4990.
23. 0 complex. J. Biol. Chem., 265, 9952-9959.
24. 1-ATPase assembly in Saccharomyces cerevisiae. FEBS Lett., 373, 66-70.
25. Altamura, N., Capitanio, N., Bonnefoy, N., Papa, S. and Dujardin, G. (1996) The Saccharomyces cerevisiae OXA1 gene is required for the correct assembly of cytochrome c oxidase and oligomycin-sensitive ATP synthase. FEBS Lett., 382, 111-115.
26. Houstek, J., Tvrdik, P., Pavelka, S. and Baudysova, M. (1991) Low content of mitochondrial ATPase in brown adipose tissue is the result of post-transcriptional regulation. FEBS Lett., 294, 191-194.
27. 1-ATPase beta-subunit mRNA largely accounts for the decreased ATPase content in brown adipose tissue mitochondria. FEBS Lett., 313, 23-26.
28. 1-ATPase in brown adipose tissue. J. Biol. Chem., 270, 7689-7694.
29. Andersson, U., Houstek, J. and Cannon, B. (1997) ATP synthase subunit c expression: physiological regulation of the P1 and P2 genes. Biochem. J., 323, 379-385.
30. Izquierdo, J.M. and Cuezva, J.M. (1993) Evidence of post-transcriptional regulation in mammalian mitochondrial biogenesis. Biochem. Biophys. Res. Commun., 196, 55-60.
31. 1-ATPase complex. J. Biol. Chem., 265, 9090-9097.
32. 1-ATPase beta subunit precursor protein by high-resolution 2D-gel electrophoresis. J. Biochem. (Tokyo), 113, 129-131.
33. 1-ATPase gene expression during mitochondrial biogenesis in liver. J. Biol. Chem., 270, 10342-10350.
34. Litzkas, P., Jha, K.K. and Ozer, H.L. (1984) Efficient transfer of cloned DNA into human diploid cells: protoplast fusion in suspension. Mol. Cell Biol., 4, 2549-2552.
35. Tiranti, V., Munaro, M., Sandona, D., Lamantea, E., Rimoldi, M., DiDonato, S., Bisson, R. and 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.
36. Schagger, H. and von Jagow, G. (1991) Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal. Biochem., 199, 223-231.
37. Schagger, H. and 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.
38. Morrissey, J.H. (1981) Silver stain for proteins in polyacrylamide gels: a modified procedure with enhanced uniform sensitivity. Anal. Biochem., 117, 307-310.
39. Nijtmans, L.G., Spelbrink, J.N., Van Galen, M.J., Zwaan, M., Klement, P. and Van den Bogert, C. (1995) Expression and fate of the nuclearly encoded subunits of cytochrome-c oxidase in cultured human cells depleted of mitochondrial gene products. Biochim. Biopohys. Acta, 1265, 117-126.
40. Wanders, R.J., Ruiter, J.P. and Wijburg, F.A. (1993) Studies on mitochondrial oxidative phosphorylation in permeabilized human skin fibroblasts: application to mitochondrial encephalomyopathies. Biochim. Biophys. Acta, 1181, 219-222.
41. Floryk, D. and Houstek, J. (1999) Tetramethyl rhodamine methyl ester (TMRM) is suitable for cytofluorometric measurements of mitochondrial membrane potential in cells treated with digitonin. Biosci. Rep., 19, 27-34.
42. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
43. Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J.T., Wherret, J., Smith, C., Rudd, N., Petrova Benedict, R. and Robinson, B.H. (1992) Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet., 50, 852-858.
44. Zeviani, M., Amati, P., Bresolin, N., Antozzi, C., Piccolo, G., Toscano, A. and 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.
45. Kobayashi, Y., Momoi, M.Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y. and 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.
46. Wharton, D.C. and Tzagoloff, A. (1967) Cytochrome oxidase from beef heart mitochondria. Methods Enzymol., 10, 245-253.
47. Srere, P.A. (1969) Citrate synthase. Methods Enzymol., 13, 3-26.
48. Teodosiu, D.C., Cederblad, G. and Hultman, E. (1991) A sensitive radioisotopic assay of pyruvate dehydrogenase complex in human muscle tissue. Anal. Biochem., 198, 347-351.
49. 1-ATPase affect catalysis, enzyme conformation and high-affinity nucleotide binding sites. Biochim. Biophys. Acta, 976, 77-84.
50. Bradford, M.M. (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal. Biochem., 72, 248-254.
51. Lowry, O.H., Rosebrough, N.J., Farr, A.L. and Randall, R.J. (1951) Protein measurement with Folin phenol reagent. J. Biol. Chem., 193, 265-275.