Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia

Journal of Inherited Metabolic Disease

Volumn 32, Issue 2, 2009, Pages 289-296

  Kyprianou, N ^a   Murphy, Elaine ^b   Lee, P ^b   Hargreaves, I ^b  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CITRATE SYNTHASE; PHENYLALANINE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIDECARENONE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; ASTROCYTOMA CELL; BIOSYNTHESIS; CLINICAL ARTICLE; CONTROLLED STUDY; DIET RESTRICTION; ENZYME ACTIVITY; FEMALE; HUMAN; HUMAN CELL; HYPERPHENYLALANINEMIA; MALE; MITOCHONDRIAL RESPIRATION; TREMOR;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CELL LINE, TUMOR; CELLS, CULTURED; CULTURE MEDIA; ELECTRON TRANSPORT; FEMALE; HUMANS; LACTIC ACID; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; PHENYLALANINE; PHENYLKETONURIAS; PYRUVIC ACID; TREMOR; TYROSINE; UBIQUINONE; YOUNG ADULT;

EID: 64449085699     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1080-5     Document Type: Article

References (37)

1. Almeida A, Moncada S, Bolanos JP (2004) Nitric oxide switches on glycolysis through the AMP protein kinase and 6-phosphofructo-2-kinase pathway. Nat Cell Biol 6(1): 45-51. doi: 10.1038/ncb1080.
2. Artuch R, Colome C, Vilaseca MA, et al (2001) Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria. J Inherit Metab Dis 24(3): 359-366. doi: 10.1023/ A:1010500502275.
3. Artuch R, Colome C, Sierra C, et al (2004) A longitudinal study of antioxidant status in phenylketonuric patients. Clin Biochem 37(3): 198-203. doi: 10.1016/j.clinbiochem.2003.10.017.
4. Asano S, Kameyama M, Oura A, et al (2007) L-type amino acid transporter-1 expressed in human astrocytomas, U343MGa. Biol Pharm Bull 30(3): 415-422. doi: 10.1248/bpb.30.415.
5. Bauman ML, Kemper TL (1982) Morphologic and histoanatomic observations of the brain in untreated human phenylketonuria. Acta Neuropathol 58(1): 55-63. doi: 10.1007/BF00692698.
6. Bolanos JP, Almeida A (2006) Modulation of astroglial energy metabolism by nitric oxide. Antioxid Redox Signal 8(5-6): 955-965. doi: 10.1089/ ars.2006.8.955.
7. Bolanos JP, Peuchen S, Heales SJR, Land JM, Clark JB (1994) Nitric oxide-mediated inhibition of the mitochondrial respiratory chain in cultured astrocytes. J Neurochem 63: 910-916.
8. Brismar T (1995) Physiology of transformed glial cells. Glia 15(3): 231-243.
9. 10 deficiency seems to be implicated in the pathophysiology of tremor in patients with phenylketonuria. J Inherit Metab Dis 29(Supplement 1): P-2-26.
10. Castillo M, Zafra MF, Garcia-Peregrin E (1988) Inhibition of brain and liver 3-hydroxy-3-methylglutaryl-CoA reductase and mevalonate-5-pyrophosphate decarboxylase in experimental hyperphenylalaninemia. Neurochem Res 13(6): 551-555. doi: 10.1007/ BF00973296.
11. Cleary MA, Walter JH, Wraith JE, et al (1994) Magnetic resonance imaging of the brain in phenylketonuria. Lancet 344(8915): 87-90. doi: 10.1016/ S0140-6736(94)91281-1285.
12. Colome C, Artuch R, Vilaseca MA, et al (2002) Ubiquinone-10 content in lymphocytes of phenylketonuric patients. Clin Biochem 35(1):81-84. doi: 10.1016/S0009-9120(02)00278-3.
13. 10 as an internal standard. Clin Chem 51(12): 2380-2382. doi: 10.1373/clinchem.2005.054643.
14. Ernster L, Dallner G (1995) Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta 1271(1): 195-204.
15. Faust JR, Brown MS, Goldstein JL (1980) Synthesis of delta 2-isopentenyl tRNA from mevalonate in cultured human fibroblasts. J Biol Chem 255(14): 6546-6548.
16. Gutman I, Wahlefeld WW (1974) L-Lactate determination with lactate dehydrogenase and NAD. Bergmeyer HU, Gawehn K, eds. Methods of Enzymatic Analysis, vol 3, 2nd edn, New York, Academic Press, 1464-1468.
17. Hargreaves IP (2003) Ubiquinone: Cholesterol's reclusive cousin. Ann Clin Biochem 40(Pt 3): 207-218. doi: 10.1258/000456303321610493.
18. 10 concentration and mitochondrial respiratory chain succinate cytochrome-c reductase activity in phenylketonuric patients. J Inherit Metab Dis 25 (8): 673-679. doi: 10.1023/A:1022881231253.
19. Harrison J, Hodson AW, Skillen AW, Stappenbeck R, Agius L, Alberti KG (1988) Blood glucose, lactate, pyruvate, glycerol, 3-hydroxybutyrate and acetoacetate measurements in man using a centrifugal analyser with a fluorimetric attachment. J Clin Chem Clin Biochem 26(3): 141-146.
20. Hasselbalch S, Knudsen GM, Toft PB, et al (1996) Cerebral glucose metabolism is decreased in white matter changes in patients with phenylketonuria. Pediatr Res 40(1): 21-24. doi: 10.1203/ 00006450-199607000-00004.
21. Heales SJR, Hargreaves IP, Olpin SE, et al (1996) Diagnosis of mitochondrial electron transport chain defects in small muscle biopsies. J Inherit Metab Dis 19(Supplement 1): 151. doi: 10.1007/BF01799414.
22. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193(1): 265-275.
23. McDonnell MG, Archbold GP (1996) Plasma ubiquinol/cholesterol ratios in patients with hyperlipidaemia, those with diabetes mellitus and in patients requiring dialysis. Clin Chim Acta 253(1-2): 117-126. doi: 10.1016/0009-8981(96)06357-7.
24. McDonnell GV, Esmonde TF, Hadden DR, Morrow JI (1998) A neurological evaluation of adult phenylketonuria in Northern Ireland. Eur Neurol 39(1): 38-43. doi: 10.1159/000007895.
25. Ogasahara S, Engel AG, Frens D, Mack D (1989) Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A 86(7): 2379-2382. doi: 10.1073/pnas.86.7.2379.
26. Pietz J, Dunckelmann R, Rupp A, et al (1998) Neurological outcome in adult patients with early-treated phenylketonuria. Eur J Pediatr 157(10): 824-830. doi: 10.1007/s004310050945.
27. Ragan CI, Wilson MY, Darley-Usman VM (1988) Subfractionation of mitochondria and isolation of proteins of oxidative phosphorylation. In: Darley VM, Rickwood D, Wilson MT, eds. Mitochondria: A Practical Approach. Oxford: IRL Press, 79-113.
28. Rashed MS, Bucknall MP, Little D, et al (1997) Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 43(7): 1129-1141.
29. Rech VC, Feksa LR, Dutra-Filho CS, Wyse AT, Wajner M, Wannmacher CM (2002) Inhibition of the mitochondrial respiratory chain by phenylalanine in rat cerebral cortex. Neurochem Res 27(5): 353-357. doi: 10.1023/A:1015529511664.
30. Rodrigues NR, Wannmacher CM, Dutra-Filho CS, Pires RF, Fagan PR, Wajner M (1990) Effect of phenylalanine, p-chlorophenylalanine and alpha-methylphenylalanine on glucose uptake in vitro by the brain of young rats. Biochem Soc Trans 18 (3): 419.
31. Scriver C, Kaufman S, Woo S (1995) The hyperphenylalaninemias. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 7th ed. New York: McGraw Hill, 147-160.
32. Shefer S, Tint GS, Jean-Guillaume D, et al (2000) Is there a relationship between 3-hydroxy-3-methylglutaryl coenzyme a reductase activity and forebrain pathology in the PKU mouse? J Neurosci Res 61(5): 549-563. doi: 10.1002/ 1097-4547(20000901)61:5<549::AID-JNR10>3.0.CO,2-0.
33. Shepherd J, Garland PB (1969) [2] Citrate synthase from rat liver: [EC 4.1.3.7 Citrate oxaloacetage-lyase (CoA-acetylating)]. Methods Enzymol (13): 11-16 doi: 10.1016/0076-6879(69)13006-2.
34. Smith I, Lee P (1995) The Hyperphenylalaninemias. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 7th edn. New York: McGraw-Hill, 147-160.
35. Thompson AJ, Tillotson S, Smith I, Kendall B, Moore SG, Brenton DP (1993) Brain MRI changes in phenylketonuria. Associations with dietary status. Brain 116(Pt 4): 811-821.
36. Turunen M, Swiezewska E, Chojnacki T, Sindelar P, Dallner G (2002) Regulatory aspects of coenzyme Q metabolism. Free Radic Res 36(4): 437-443. doi: 10.1080/10715760290021298.
37. 10 content of the average Danish diet. Int J Vitam Nutr Res 67(2): 123-129.