Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex

Molecular and Cellular Biochemistry

Volumn 174, Issue 1-2, 1997, Pages 243-247

  Trijbels, Frans J M ^a   Ruitenbeek, Wim ^a   Huizing, Marjan ^a   Wendel, Udo ^b   Smeitink, Jan A M ^a   Sengers, Rob C A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Mitochondrial myopathy; Mitochondrial transport disorders; Non respiratory chain defects

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; ANION CHANNEL; CREATINE KINASE; HEAT SHOCK PROTEIN; MALIC ACID; MITOCHONDRIAL ENZYME; PHOSPHATE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PYRUVATE DEHYDROGENASE COMPLEX; SUCCINIC ACID;

ARTICLE; ENERGY METABOLISM; ENZYME DEFICIENCY; ENZYME KINETICS; ENZYME SUBSTRATE; HUMAN; INTRACELLULAR TRANSPORT; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; PROTEIN DEFECT; RESPIRATORY CHAIN;

ELECTRON TRANSPORT; ENERGY METABOLISM; HUMANS; MITOCHONDRIA; MITOCHONDRIAL MYOPATHIES; PYRUVATE DEHYDROGENASE COMPLEX;

EID: 0030882059     PISSN: 03008177     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1006868810424     Document Type: Article

References (16)

1. Shoffner JM, Wallace DC: Oxidative phosphorylation diseases. In: CR Scriver, AL Beaudet, WS Sly, D Valle (eds). The Metabolic and Molecular Bases of Inherited Disease, 1995, pp 1535-1609
2. Schotland DL, DiMauro S, Bonilla E, Scarpa A, Lee C-P: Neuromuscular disorder associated with a defect in mitochondrial energy supply. Arch Neurol 33: 475-479, 1976
3. Holme E, Greter J, Jacobson C-E, Larsson N-G, Lindstedt S, Nilsson KO, Oldfors A, Tulinius M: Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. Pediatr Res 32: 731-735, 1992
4. Steeghs K, Peters W, Bruckwilder M, Croes H, van Alewijk D, Wieringa B: Mouse ubiquitous mitochondrial creatine kinase: gene organization and consequences of inactivation in mouse embryonic stem cells. DNA Cell Biol 14: 539-553, 1995
5. Steeghs K, Heerschap A, de Haan A, Ruitenbeek W, Oerlemans F, van Deursen J, Perryman B, Pette D, Croes H, Bruckwilder M, Koudijs J, Yap P, Wieringa B: Muscles with combined mitochondrial and cytosolic creatine kinase deficiencies display hyperproliferative sarcoplasmic reticulum and severe impaired forse generation. J Neurosci Meth, in press, 1996
6. Bakker HD, Scholte HR, van den Bogert C, Ruitenbeek W, Jeneson JAL, Wanders RJA, Abeling NGGM, Dorland B, Sengers RCA, van Gennip AH: Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. Pediatr Res 33: 412-417, 1993
7. Hayes DJ, Taylor DJ, Bore PJ, Hilton-Jones D, Arnold DL, Squier MV, Gent AE, Radda GK: An unusual metabolic myopathy: a malate-aspartate shuttle defect. J Neurol Sci 82: 27-39, 1987
8. Huizing M, Ruitenbeek W, Thinnes FP, DePinto V, Wendel U, Trijbels JMF, Smit LME, Ter Laak HJ, Van den Heuvel LP: Deficiency of the voltage-dependent anion channel: A novel cause of mitochondriopathy. Pediatr Res 39: 760-765, 1996
9. Allen RJ, DiMauro S, Coulter DL, Papadimitriou A, Rothenberg SP: Kearns Sayre syndrome with reduced plasma and cerebrospinal fluid folate. Ann Neurol 13: 679-682, 1983
10. Ogasahara S, Engel AG, Frens D, Mack D: Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci 86: 2379-2382, 1989
11. Zierz S, Jahns G, Jerusalem F: Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus. J Neurol 236: 97-101, 1989
12. Huckriede A, Agsteribbe E: Decreased synthesis and inefficient mitochondrial import of hsp 60 in a patient with a mitochondrial encephalomyopathy. Biochim Biophys Acta 1227: 200-206, 1994
13. Agsteribbe E, Huckriede A, Veenhuis M, Ruiters MHJ, Niezen-Koning KE, Skjeldal O, Skullerud K, Gupta RS, Hallberg R, van Diggelen OP, Scholte HR: A fatal systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60. Biophys Res Comm 193: 146-154, 1993
14. Glerum M, Robinson BH, Spratt C, Wilson J, Patrick D: Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease. Am J Hum Genet 41: 584-593, 1987
15. Nijtmans LGJ, Barth PG, Lincke CR, van Galen MJM, Zwart R, Klement P, Bolhuis PA, Ruitenbeek W, Wanders RJA, van den Bogert C: Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy. Biochim Biophys Acta 1270: 193-201, 1995
16. Bernsen PLJA, Gabreëls FJM, Ruitenbeek W, Sengers RCA, Stadhouders AM, Renier WO: Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine. Arch Neurol 48: 334-338, 1991