Abstract
Disturbances in substrate oxidations in muscle mitochondria from patients with a suspicion of a mitochondrial myopathy may arise from a deficiency of one or more of the complexes of the respiratory chain or of the pyruvate dehydrogenase complex. However, we found no clear-cut defect in a substantial part of such patients. In this report we discuss some of the other possibilities which could account for the disturbed substrate oxidation rates. Special attention will be paid to defects which are localized outside the respiratory chain, such as defects in post-respiratory chain enzymes, defects in transport mechanisms of the mitochondrial inner or outer membrane, deficiency of cofactors and deficiency of heat-shock protein. (Mol Cell Biochem 174: 243–247, 1997)
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References
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
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
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
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
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 sar-coplasmic reticulum and severe impaired forse generation.J Neurosci Meth, in press, 1996
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
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
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
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
Ogasahara S, Engel AG, Frens D, Mack D: Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci 86: 2379–2382, 1989
Zierz S, Jahns G, Jerusalem F: Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthal-moplegia plus. J Neurol 236: 97–101, 1989
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
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
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
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
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
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Trijbels, F.J.M., Ruitenbeek, W., Huizing, M., Wendel, U., Smeitink, J.A.M., Sengers, R.C.A. (1997). Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex. In: Gellerich, F.N., Zierz, S. (eds) Detection of Mitochondrial Diseases. Developments in Molecular and Cellular Biochemistry, vol 21. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-6111-8_38
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DOI: https://doi.org/10.1007/978-1-4615-6111-8_38
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