Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

American Journal of Human Genetics

Volumn 76, Issue 6, 2005, Pages 1081-1086

  Elpeleg, Orly ^a,b   Miller, Chaya ^a   Hershkovitz, Eli ^c   Bitner Glindzicz, Maria ^d   Bondi Rubinstein, Gili ^a   Rahman, Shamima ^d   Pagnamenta, Alistair ^d   Eshhar, Sharon ^a   Saada, Ann ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; MITOCHONDRIAL DIPHOSPHATE KINASE; MITOCHONDRIAL DNA; NUCLEOSIDE TRIPHOSPHATE; PHOSPHOTRANSFERASE; SUCCINYL COENZYME A SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; ENCEPHALOMYOPATHY; FEMALE; GENE; GENE REPLICATION; GENETIC ASSOCIATION; HUMAN; INFANT; MALE; MITOCHONDRIAL DNA DEPLETION; PRIORITY JOURNAL; SUCLA2 GENE;

EID: 18944390365     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/430843     Document Type: Article

References (34)

1. Allen DA, Ottaway JH (1986) Succinate thiokinase in pigeon breast muscle mitochondria. FEBS Lett 194:171-175
2. Andreoli C, Prokisch H, Hortnagel K, Mueller JC, Munsterkotter M, Scharfe C, Meitinger T (2004) MitoP2, an integrated database on mitochondrial proteins in yeast and man. Nucleic Acids Res 32:D459-D462
3. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW, Cornelisse CJ, Devilee P, Devlin B (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851
4. Bogenhagen D, Clayton DA (1976) Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells: effect of 5-fluorodeoxyuridine and methotrexate in thymidine kinase plus and thymidine kinase minus cells. J Biol Chem 251:2938-2944
5. Bogenhagen DF, Wang Y, Shen EL, Kobayashi R (2003) Protein components of mitochondrial DNA nucleoids in higher eukaryotes. Mol Cell Proteomics 2:1205-1216
6. Bradshaw PC, Samuels DC (2005) A computational model of mitochondrial deoxynucleotide metabolism and DNA replication. Am J Physiol Cell Physiol, published online Jan 5
7. Cha S, Parks RE (1964) Succinic thiokinase. I. Purification of the enzyme from pig heart. J Biol Chem 239:1961-1967
8. Chen XJ, Wang X, Kaufman BA, Butow RA (2005) Aconitase couples metabolic regulation to mitochondrial DNA maintenance. Science 307:714-717
9. Dooijewaard G, Slater EC (1976) Steady state kinetics of high molecular weight (type I) NADH dehydrogenase. Biochem Biophys Acta 440:1-15
10. Ducluzeau PH, Lachaux A, Bouvier R, Streichenberger N, Stepien G, Mousson B (1999) Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis. J Hepatol 30:149-155
11. Elpeleg O (2003) Inherited mitochondrial DNA depletion. Pediatr Res 54:153-159
12. Hoppel C, Cooper C (1969) An improved procedure for preparation of inner membrane vesicles from rat liver mitochondria by treatment with digitonin. Arch Biochem Biophys 135:173-183
13. Jeffery CJ (1999) Moonlighting proteins. Trends Biochem Sci 24:8-11
14. Johnson JD, Mehus JG, Tews K, Milavetz BI, Lambeth DO (1998a) Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. J Biol Chem 273:27580-27586
15. Johnson JD, Muhonen WW, Lambeth DO (1998b) Characterization of the ATP- and GTP-specific succinyl-CoA synthetases in pigeon: the enzymes incorporate the same α-subunit. J Biol Chem 273:27573-27579
16. Kadrmas EF, Ray PD, Lambeth DO (1991) Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit. Biochim Biophys Acta 1074:339-346
17. Kavanaugh-Black A, Connolly DM, Chugani SA, Chakrabarty AM (1994) Characterization of nucleoside-diphosphate kinase from Pseudomonas aeruginosa: complex formation with succinyl-CoA synthetase. Proc Natl Acad Sci USA 91:5883-5887
18. Kowluru A, Tannous M, Chen HQ (2002) Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic β cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch Biochem Biophys 398:160-169
19. Lambeth DO, Tews KN, Adkins S, Frohlich D, Milavetz BI (2004) Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J Biol Chem 279:36621-36624
20. Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N (2001) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29:337-341
21. Milon L, Meyer P, Chiadmi M, Munier A, Johansson M, Karlsson A, Lascu I, Capeau J, Janin J, Lacombe ML (2000) The human nm23-H4 gene product is a mitochondrial nucleoside diphosphate kinase. J Biol Chem 275:14264-14272
22. Milon L, Rousseau-Merck MF, Munier A, Erent M, Lascu I, Capeau J, Lacombe ML (1997) nm23-H4, a new member of the family of human nm23/nucleoside diphosphate kinase genes localized on chromosome 16p13. Hum Genet 99:550-557
23. Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48:492-501
24. Naviaux RK, Nguyen KV (2004) POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55:706-712
25. Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692
26. Parks RE, Agarwal RP (1973) Nucleoside diphosphokinases. In: Boyer PD (ed) The enzymes. Academic Press, New York, pp 307-333
27. Rustin P, Bourgeron T, Parfait B, Chretien D, Munnich A, Rotig A (1997) Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human. Biochim Biophys Acta 1361:185-197
28. Saada A (2004) Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol 23:797-806
29. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O (2001) Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29:342-344
30. Sanadi DR, Gibson M, Ayengar P (1954) Guanosine triphosphate, the primary product of phosphorylation coupled to the breakdown of succinyl coenzyme A. Biochim Biophys Acta 14:434-436
31. Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, et al (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406-410
32. Tritschler HJ, Andreetta F, Moraes CT, Bonilla E, Arnaudo E, Danon MJ, Glass S, Zelaya BM, Vamos E, Telerman-Toppet N (1992) Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 42:209-217
33. Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkupt S, Maertens P, Shanske S, Mendell J, Koenigsberger MR, Sharer L, Schon EA, DiMauro S, DeVivo DC (1998) Clinical manifestations of mitochondrial DNA depletion. Neurology 50:1783-1790
34. Weitzman PD, Jenkins T, Else AJ, Holt RA (1986) Occurrence of two distinct succinate thiokinases in animal tissues. FEBS Lett 199:57-60