PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pahenu2 mice

Brain Research

Volumn 1127, Issue 1, 2007, Pages 136-150

  Embury, Jennifer E ^a   Charron, Catherine E ^d   Martynyuk, Anatoly ^a   Zori, Andreas G ^a   Liu, Bin ^b   Ali, Syed F ^e   Rowland, Neil E ^c   Laipis, Philip J ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA HEALTH   (United States)

^c University of Florida   (United States)

^d NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^e CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

Author keywords

Adeno associated virus; Gene therapy; Monoamines; Oxidative stress; Phenylketonuria

Indexed keywords

MONOAMINE; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

ALTERNATIVE MEDICINE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLOOD LEVEL; CONTROLLED STUDY; DIET THERAPY; DISEASE MODEL; DNA RESPONSIVE ELEMENT; FEMALE; HEPATITIS VIRUS; LONG TERM CARE; MALE; METABOLIC DISORDER; MONOAMINE METABOLISM; MOUSE; NERVE DEGENERATION; NEUROPATHOLOGY; NIGRONEOSTRIATAL SYSTEM; NONHUMAN; PARVOVIRUS VECTOR; PHENYLKETONURIA; PORTAL VEIN; PRIORITY JOURNAL; REGENERATION; VIRAL GENE DELIVERY SYSTEM; VIRAL GENE THERAPY; VIROGENESIS; VIRUS VECTOR;

AMINO ACID OXIDOREDUCTASES; ANIMALS; BIOGENIC MONOAMINES; CORPUS STRIATUM; DEPENDOVIRUS; DISEASE MODELS, ANIMAL; FEMALE; GENE THERAPY; GENETIC VECTORS; MALE; MICE; MICE, NEUROLOGIC MUTANTS; NERVE DEGENERATION; NEURAL PATHWAYS; NEURODEGENERATIVE DISEASES; NEUROGLIA; NEURONS; OXIDATIVE STRESS; PHENYLALANINE; PHENYLKETONURIAS; SUBSTANTIA NIGRA; TREATMENT OUTCOME;

ADENO-ASSOCIATED VIRUS; WOODCHUCK HEPATITIS VIRUS;

EID: 33845193195     PISSN: 00068993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainres.2006.09.101     Document Type: Article

References (44)

1. Ali S.F., Newport G.D., Holson R.R., Slikker Jr. W., and Bowyer J.F. Low environmental temperatures or pharmacologic agents that produce hypothermia decrease methamphetamine neurotoxicity in mice. Brain Res. 658 (1994) 33-38
2. Artuch R., Colome C., Vilaseca M.A., Sierra C., Cambra F.J., Lambruschini N., and Campistol J. Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria. J. Inherit. Metab Dis. 24 (2001) 359-366
3. Artuch R., Colome C., Sierra C., Brandi N., Lambruschini N., Campistol J., Ugarte D., and Vilaseca M.A. A longitudinal study of antioxidant status in phenylketonuric patients. Clin. Biochem. 37 (2004) 198-203
4. Castro L., Rodriguez M., and Radi R. Aconitase is readily inactivated by peroxynitrite, but not by its precursor, nitric oxide. J. Biol. Chem. 269 (1994) 29409-29415
5. Castro L.A., Robalinho R.L., Cayota A., Meneghini R., and Radi R. Nitric oxide and peroxynitrite-dependent aconitase inactivation and iron-regulatory protein-1 activation in mammalian fibroblasts. Arch. Biochem. Biophys. 359 (1998) 215-224
6. Chen L.W., Hu H.J., Liu H.L., Yung K.K., and Chan Y.S. Identification of brain-derived neurotrophic factor in nestin-expressing astroglial cells in the neostriatum of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated mice. Neuroscience 126 (2004) 941-953
7. Colome C., Artuch R., Sierra C., Brandi N., Lambruschini N., Campistol J., and Vilaseca M.A. Plasma thiols and their determinants in phenylketonuria. Eur. J. Clin. Nutr. 57 (2003) 964-968
8. Cummings J.F., and de L.A. A study of cerebellar and cerebral cortical degeneration in miniature poodle pups with emphasis on the ultrastructure of Purkinje cell changes. Acta Neuropathol. (Berl) 75 (1988) 261-271
9. Dal Canto M.C., and Gurney M.E. Development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am. J. Pathol. 145 (1994) 1271-1279
10. Diamond A., Prevor M.B., Callender G., and Druin D.P. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr. Soc. Res. Child Dev. 62 (1997) i-208
11. +-ATPase activity in synaptosomes from rat brain. Neurochem. Res. 7 (1982) 717-725
12. Embury J.E., Reep R.R., and Laipis P.J. Pathologic and immunohistochemical findings in hypothalamic and mesencephalic regions in the pah(enu2) mouse model for phenylketonuria. Pediatr. Res. 58 (2005) 283-287
13. Ercal N., ykin-Burns N., Gurer-Orhan H., and McDonald J.D. Oxidative stress in a phenylketonuria animal model. Free Radic. Biol. Med. 32 (2002) 906-911
14. Franklin K.B.J., and Paxinos G. The Mouse Brain in Stereotaxic Coordinates (1997), Academic Press, San Diego
15. Halliwell B. Role of free radicals in the neurodegenerative diseases: therapeutic implications for antioxidant treatment. Drugs Aging 18 (2001) 685-716
16. Halliwell B., and Gutteridge J.M.C. Free Radicals in Biology and Medicine (1989), Clarendon Press, Oxford
17. Halliwell B., and Gutteridge J.M.C. Free Radicals in Biology and Medicine (1989), Clarendon Press, Oxford
18. Huttenlocher P.R. The neuropathology of phenylketonuria: human and animal studies. Eur. J. Pediatr. 159 Suppl. 2 (2000) S102-S106
19. Kaufman S. A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 3160-3164
20. Kortz G.D., Meier W.A., Higgins R.J., French R.A., McKiernan B.C., Fatzer R., and Zachary J.F. Neuronal vacuolation and spinocerebellar degeneration in young Rottweiler dogs. Vet. Pathol. 34 (1997) 296-302
21. Krause W., Halminski M., McDonald L., Dembure P., Salvo R., Freides D., and Elsas L. Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man. J. Clin. Invest. 75 (1985) 40-48
22. Kumar V., Abbas A.K., Fausto N., Robbins S.L., and Cotran R.S. Robbins and Cotran Pathologic Basis of Disease (2005), Elsevier Saunders, Philadelphia
23. Levy H.L. Phenylketonuria: old disease, new approach to treatment. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 1811-1813
24. Martinez-Cruz F., Pozo D., Osuna C., Espinar A., Marchante C., and Guerrero J.M. Oxidative stress induced by phenylketonuria in the rat: prevention by melatonin, vitamin E, and vitamin C. J. Neurosci. Res. 69 (2002) 550-558
25. McDonald J.D., and Charlton C.K. Characterization of mutations at the mouse phenylalanine hydroxylase locus. Genomics 39 (1997) 402-405
26. Paterna J.C., Moccetti T., Mura A., Feldon J., and Bueler H. Influence of promoter and WHV post-transcriptional regulatory element on AAV-mediated transgene expression in the rat brain. Gene Ther. 7 (2000) 1304-1311
27. Pietz J. Neurological aspects of adult phenylketonuria. Curr. Opin. Neurol. 11 (1998) 679-688
28. Pietz J., Fatkenheuer B., Burgard P., Armbruster M., Esser G., and Schmidt H. Psychiatric disorders in adult patients with early-treated phenylketonuria. Pediatrics 99 (1997) 345-350
29. Pietz J., Dunckelmann R., Rupp A., Rating D., Meinck H.M., Schmidt H., and Bremer H.J. Neurological outcome in adult patients with early-treated phenylketonuria. Eur. J. Pediatr. 157 (1998) 824-830
30. Puglisi-Allegra S., Cabib S., Pascucci T., Ventura R., Cali F., and Romano V. Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria. NeuroReport 11 (2000) 1361-1364
31. Radi R., Cassina A., and Hodara R. Nitric oxide and peroxynitrite interactions with mitochondria. Biol. Chem. 383 (2002) 401-409
32. Saravanan, K.S., Sindhu, K.M., Mohanakumar, K.P., 2005 Acute intranigral infusion of rotenone in rats causes progressive biochemical lesions in the striatum similar to Parkinson's disease, pp. 147-155.
33. Schambach A., Wodrich H., Hildinger M., Bohne J., Krausslich H.G., and Baum C. Context dependence of different modules for posttranscriptional enhancement of gene expression from retroviral vectors. Mol. Ther. 2 (2000) 435-445
34. Scriver C.R. The Metabolic and Molecular Bases of Inherited Disease (1995), McGraw-Hill, Health Professions Division, New York
35. Shedlovsky A., McDonald J.D., Symula D., and Dove W.F. Mouse models of human phenylketonuria. Genetics 134 (1993) 1205-1210
36. Sierra C., Vilaseca M.A., Moyano D., Brandi N., Campistol J., Lambruschini N., Cambra F.J., Deulofeu R., and Mira A. Antioxidant status in hyperphenylalaninemia. Clin. Chim. Acta 276 (1998) 1-9
37. Sirtori L.R., Dutra-Filho C.S., Fitarelli D., Sitta A., Haeser A., Barschak A.G., Wajner M., Coelho D.M., Llesuy S., Bello-Klein A., Giugliani R., Deon M., and Vargas C.R. Oxidative stress in patients with phenylketonuria. Biochim. Biophys. Acta 1740 (2005) 68-73
38. Smith I., and Wolff O.H. Natural history of phenylketonuria and influence of early treatment. Lancet 2 (1974) 540-544
39. Song S., Embury J., Laipis P.J., Berns K.I., Crawford J.M., and Flotte T.R. Stable therapeutic serum levels of human alpha-1 antitrypsin (AAT) after portal vein injection of recombinant adeno-associated virus (rAAV) vectors. Gene Ther. 8 (2001) 1299-1306
40. Swaiman K.F., and Wu S.R. Phenylalanine and phenylacetate adversely affect developing mammalian brain neurons. Neurology 34 (1984) 1246-1250
41. Wajner M., Latini A., Wyse A.T., and Dutra-Filho C.S. The role of oxidative damage in the neuropathology of organic acidurias: insights from animal studies. J. Inherit. Metab. Dis. 27 (2004) 427-448
42. +-ATPase activity in midbrain of rats subjected to arginine administration. Neurochem. Res. 26 (2001) 515-520
43. Zhang W., Wang T., Qin L., Gao H.M., Wilson B., Ali S.F., Zhang W., Hong J.S., and Liu B. Neuroprotective effect of dextromethorphan in the MPTP Parkinson's disease model: role of NADPH oxidase. FASEB J. 18 (2004) 589-591
44. Zolotukhin S., Potter M., Zolotukhin I., Sakai Y., Loiler S., Fraites Jr. T.J., Chiodo V.A., Phillipsberg T., Muzyczka N., Hauswirth W.W., Flotte T.R., Byrne B.J., and Snyder R.O. Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors. Methods 28 (2002) 158-167