Gene therapy for dopamine replacement

Progress in Brain Research

Volumn 184, Issue C, 2010, Pages 220-235

  Björklund, Tomas ^a   Cederfjäll, Erik Ahlm ^a   Kirik, Deniz ^a  

^a LUND UNIVERSITY   (Sweden)

Author keywords

Adeno associated viral vectors; Clinical trials; Continuous DOPA delivery; Gene therapy; Parkinson's disease

Indexed keywords

AROMATIC LEVO AMINO ACID DECARBOXYLASE; CARBIDOPA PLUS LEVODOPA; DOPAMINE; LEVODOPA; TETRAHYDROBIOPTERIN; VIRUS VECTOR; DOPA; DOPAMINE RECEPTOR STIMULATING AGENT;

BOOK; CLINICAL TRIAL; CONTINUOUS INFUSION; DOPAMINE METABOLISM; DOPAMINE RELEASE; DRUG EFFICACY; DYSKINESIA; ENZYME PHOSPHORYLATION; ENZYME REPLACEMENT; GENE OVEREXPRESSION; GENE TARGETING; GENE THERAPY; GENE TRANSFER; HUMAN; NERVE DEGENERATION; NEUROTRANSMISSION; NONHUMAN; PARKINSON DISEASE; PATIENT SAFETY; PRIORITY JOURNAL; TRANSGENE; ANIMAL; BIOSYNTHESIS; DRUG IMPLANT; GENE VECTOR; GENETICS; PHYSIOLOGY; REVIEW; VIRUS;

ANIMALS; DIHYDROXYPHENYLALANINE; DOPAMINE; DOPAMINE AGENTS; DRUG IMPLANTS; ENZYME REPLACEMENT THERAPY; GENE THERAPY; GENETIC VECTORS; HUMANS; PARKINSON DISEASE; VIRUSES;

EID: 77957224858     PISSN: 00796123     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S0079-6123(10)84012-9     Document Type: Chapter

References (78)

1. Abate C., Smith J.A., Joh T.H. Characterization of the catalytic domain of bovine adrenal tyrosine hydroxylase. Biochemical and Biophysical Research Communications 1988, 151(3):1446-1453.
2. Ames M., Lerner P., Lovenberg W. Tyrosine hydroxylase. Activation by protein phosphorylation and end product inhibition. Journal of Biological Chemistry 1978, 253(1):27-31.
3. Arai R., Karasawa N., Geffard M., Nagatsu I. L-DOPA is converted to dopamine in serotonergic fibers of the striatum of the rat: A double-labeling immunofluorescence study. Neuroscience Letters 1995, 195(3):195-198.
4. Arai R., Karasawa N., Geffard M., Nagatsu T., Nagatsu I. Immunohistochemical evidence that central serotonin neurons produce dopamine from exogenous L-DOPA in the rat, with reference to the involvement of aromatic L-amino acid decarboxylase. Brain Research 1994, 667(2):295-299.
5. Azzouz M., Martin-Rendon E., Barber R.D., Mitrophanous K.A., Carter E.E., Rohll J.B., et al. Multicistronic lentiviral vector-mediated striatal gene transfer of aromatic L-amino acid decarboxylase, tyrosine hydroxylase, and GTP cyclohydrolase I induces sustained transgene expression, dopamine production, and functional improvement in a rat model of Parkinson's disease. Journal of Neuroscience 2002, 22(23):10302-10312.
6. Bankiewicz K.S., Daadi M., Pivirotto P., Bringas J., Sanftner L.M., Cunningham J., et al. Focal striatal dopamine may potentiate dyskinesias in parkinsonian monkeys. Experimental Neurology 2006, 197(2):363-372.
7. Bankiewicz K.S., Forsayeth J., Eberling J.L., Sanchez-Pernaute R., Pivirotto P., Bringas J., et al. Long-term clinical improvement in MPTP-lesioned primates after gene therapy with AAV-hAADC. Molecular Therapy 2006, 14(4):564-570.
8. Bencsics C., Wachtel S.R., Milstien S., Hatakeyama K., Becker J.B., Kang U.J. Double transduction with GTP cyclohydrolase I and tyrosine hydroxylase is necessary for spontaneous synthesis of L-DOPA by primary fibroblasts. Journal of Neuroscience 1996, 16(14):4449-4456.
9. Bjorklund A., Bjorklund T., Kirik D. Gene therapy for dopamine replacement in Parkinson's disease. Science Translational Medicine 2009, 1(2):2ps-2.
10. Björklund T., Carlsson T., Cederfjäll E.A., Carta M., Kirik D. Optimized adeno-associated viral vector-mediated striatal DOPA delivery restores sensorimotor function and prevents dyskinesias in a model of advanced Parkinson's disease. Brain 2010, 133(Pt 2):496-511.
11. Björklund A., Dunnett S.B. Dopamine neuron systems in the brain: An update. Trends in Neurosciences 2007, 30(5):194-202.
12. Bjorklund T., Hall H., Breysse N., Soneson C., Carlsson T., Mandel R.J., et al. Optimization of continuous in vivo DOPA production and studies on ectopic DA synthesis using rAAV5 vectors in Parkinsonian rats. Journal of Neurochemistry 2009, 111(2):355-367.
13. Campbell D.G., Hardie D.G., Vulliet P.R. Identification of four phosphorylation sites in the N-terminal region of tyrosine hydroxylase. Journal of Biological Chemistry 1986, 261(23):10489-10492.
14. Carlsson T., Winkler C., Burger C., Muzyczka N., Mandel R.J., Cenci M.A., et al. Reversal of dyskinesias in an animal model of Parkinson's disease by continuous L-DOPA delivery using rAAV vectors. Brain 2005, 128(Pt 3):559-569.
15. Carta M., Carlsson T., Kirik D., Bjorklund A. Dopamine released from 5-HT terminals is the cause of L-DOPA-induced dyskinesia in parkinsonian rats. Brain 2007, 130(Pt 7):1819-1833.
16. Chen L., Ding Y., Cagniard B., Van Laar A.D., Mortimer A., Chi W., et al. Unregulated cytosolic dopamine causes neurodegeneration associated with oxidative stress in mice. Journal of Neuroscience 2008, 28(2):425-433.
17. Christine C.W., Starr P.A., Larson P.S., Eberling J.L., Jagust W.J., Hawkins R.A., et al. Safety and tolerability of putaminal AADC gene therapy for Parkinson disease. Neurology 2009, 73(20):1662-1669.
18. Coker G.T., Vinnedge L., O'Malley K.L. Characterization of rat and human tyrosine hydroxylase genes: Functional expression of both promoters in neuronal and non-neuronal cell types. Biochemical and Biophysical Research Communicatons 1988, 157(3):1341-1347.
19. Corti O., Sánchez-Capelo A., Colin P., Hanoun N., Hamon M., Mallet J. Long-term doxycycline-controlled expression of human tyrosine hydroxylase after direct adenovirus-mediated gene transfer to a rat model of Parkinson's disease. Proceedings of the National Academy of Sciences United States of America 1999, 96(21):12120-12125.
20. Cumming P., Kuwabara H., Ase A., Gjedde A. Regulation of DOPA decarboxylase activity in brain of living rat. Journal of Neurochemistry 1995, 65(3):1381-1390.
21. de la Fuente-Fernández R., Sossi V., Huang Z., Furtado S., Lu J.-Q., Calne D.B., et al. Levodopa-induced changes in synaptic dopamine levels increase with progression of Parkinson's disease: Implications for dyskinesias. Brain 2004, 127(Pt 12):2747-2754.
22. Dunkley P.R., Bobrovskaya L., Graham M.E., von Nagy-Felsobuki E.I., Dickson P.W. Tyrosine hydroxylase phosphorylation: Regulation and consequences. Journal of Neurochemistry 2004, 91(5):1025-1043.
23. During M.J., Naegele J., O'Malley K.L., Geller A. Long-term behavioral recovery in parkinsonian rats by an HSV vector expressing tyrosine hydroxylase. Science 1994, 266(5189):1399-1403.
24. Eberling J.L., Jagust W.J., Christine C.W., Starr P., Larson P., Bankiewicz K.S., et al. Results from a phase I safety trial of hAADC gene therapy for Parkinson disease. Neurology 2008, 70(21):1980-1983.
25. Fitzpatrick P.F. The metal requirement of rat tyrosine hydroxylase. Biochemical and Biophysical Research Communicatons 1989, 161(1):211-2105.
26. Forsayeth J., Eberling J., Sanftner L.M., Zhen Z., Pivirotto P., Bringas J., et al. A dose-ranging study of AAV-hAADC therapy in parkinsonian monkeys. Molecular Therapy 2006, 14(4):571-577.
27. Geller A.I., During M.J., Oh Y.J., Freese A., O'Malley K. An HSV-1 vector expressing tyrosine hydroxylase causes production and release of L-dopa from cultured rat striatal cells. Journal of Neurochemistry 1995, 64(2):487-496.
28. Grima B., Lamouroux A., Blanot F., Biguet N.F., Mallet J. Complete coding sequence of rat tyrosine hydroxylase mRNA. Proceedings of the National Academy of Sciences United States of America 1985, 82(2):617-621.
29. Haavik J., Le Bourdelles B., Martinez A., Flatmark T., Mallet J. Recombinant human tyrosine hydroxylase isozymes. Reconstitution with iron and inhibitory effect of other metal ions. European Journal of Biochemistry 1991, 199(2):371-378.
30. Haavik J., Martínez A., Flatmark T. pH-dependent release of catecholamines from tyrosine hydroxylase and the effect of phosphorylation of Ser-40. FEBS Letters 1990, 262(2):363-365.
31. Hadjiconstantinou M., Wemlinger T., Sylvia C., Hubble J., Neff N. Aromatic L-amino acid decarboxylase activity of mouse striatum is modulated via dopamine receptors. Journal of Neurochemistry 1993, 60(6):2175-2180.
32. Haycock J. Phosphorylation of tyrosine hydroxylase in situ at serine 8, 19, 31, and 40. Journal of Biological Chemistry 1990, 265(20):11682-11691.
33. Hökfelt T., Mårtensson R., Björklund A. Distributional of tyrosine hydroxylase-immunoreactive neurons in the rat brain. Handbook of chemical neuroanatomy (Classical transmitters in the CNS, Part 1) 1984, Vol. 2:277-379. Elsevier, Amsterdam. A. Björklund, T. Hökfelt, M.J. Kuhar (Eds.).
34. Horellou P., Brundin P., Kalen P., Mallet J., Bjorklund A. In vivo release of dopa and dopamine from genetically engineered cells grafted to the denervated rat striatum. Neuron 1990, 5(4):393-402.
35. Horellou P., Guibert B., Leviel V., Mallet J. Retroviral transfer of a human tyrosine hydroxylase cDNA in various cell lines: Regulated release of dopamine in mouse anterior pituitary AtT-20 cells. Proceedings of the National Academy of Sciences United States of America 1989, 86(18):7233-7237.
36. Horellou P., Marlier L., Privat A., Darchen F., Scherman D., Henry J.P., et al. Exogeneous expression of L-dopa and dopamine in various cell lines following transfer of rat and human tyrosine hydroxylase cDNA: Grafting in an animal model of Parkinson's disease. Progress in Brain Research 1990, 82:23-32.
37. Ikemoto K., Kitahama K., Jouvet A., Arai R., Nishimura A., Nishi K., et al. Demonstration of L-dopa decarboxylating neurons specific to human striatum. Neuroscience Letters 1997, 232(2):111-114.
38. Isacson O. Behavioral effects and gene delivery in a rat model of Parkinson's disease. Science 1995, 269(5225):856-857.
39. Jarraya B., Boulet S., Scott Ralph G., Jan C., Bonvento G., Azzouz M., et al. Dopamine gene therapy for Parkinson's disease in a nonhuman primate without associated dyskinesia. Science Translational Medicine 2009, 1(2):2ra-4.
40. Juorio A., Li X., Walz W., Paterson I. Decarboxylation of L-dopa by cultured mouse astrocytes. Brain Research 1993, 626(1-2):306-309.
41. Kang U.J., Fisher L.J., Joh T.H., O'Malley K.L., Gage F.H. Regulation of dopamine production by genetically modified primary fibroblasts. Journal of Neuroscience 1993, 13(12):5203-5211.
42. Kang U.J., Park D., Wessel T., Baker H.F., Joh T. Dopa-decarboxylation in the striata of rats with unilateral substantia nigra lesions. Neuroscience Letters 1992, 147(1):53-57.
43. Kanner B.I., Schuldiner S. Mechanism of transport and storage of neurotransmitters. CRC Critical Reviews in Biochemistry 1987, 22(1):1-38.
44. Kirik D., Georgievska B., Burger C., Winkler C., Muzyczka N., Mandel R.J., et al. Reversal of motor impairments in parkinsonian rats by continuous intrastriatal delivery of L-dopa using rAAV-mediated gene transfer. Proceedings of the National Academy of Sciences USA 2002, 99(7):4708-4713.
45. Kuczenski R. Rat brain tyrosine hydroxylase. Activation by limited tryptic proteolysis. Journal of Biological Chemistry 1973, 248(7):2261-2265.
46. Leff S.E., Rendahl K.G., Spratt S.K., Kang U.J., Mandel R.J. In vivo L-DOPA production by genetically modified primary rat fibroblast or 9L gliosarcoma cell grafts via coexpression of GTPcyclohydrolase I with tyrosine hydroxylase. Experimental Neurology 1998, 151(2):249-264.
47. Leriche L., Bjorklund T., Breysse N., Besret L., Grégoire M.-C., Carlsson T., et al. Positron emission tomography imaging demonstrates correlation between behavioral recovery and correction of dopamine neurotransmission after gene therapy. Journal of Neuroscience 2009, 29(5):1544-1553.
48. Levine R., Miller L., Lovenberg W. Tetrahydrobiopterin in striatum: Localization in dopamine nerve terminals and role in catecholamine synthesis. Science 1981, 214(4523):919-921.
49. Lloyd K., Hornykiewicz O. Parkinson's disease: Activity of L-dopa decarboxylase in discrete brain regions. Science 1970, 170(963):1212-1213.
50. Mann S.P., Gordon J.I. Inhibition of guinea-pig brain tyrosine hydroxylase by catechols and biopterin. Journal of Neurochemistry 1979, 33(1):133-138.
51. Milstien S., Kaufman S. The biosynthesis of tetrahydrobiopterin in rat brain. Purification and characterization of 6-pyruvoyl tetrahydropterin (2'-oxo)reductase. Journal of Biological Chemistry 1989, 264(14):8066-8073.
52. Moffat M., Harmon S., Haycock J., O'Malley K.L. L-dopa and dopamine-producing gene cassettes for gene therapy approaches to Parkinson's disease. Experimental Neurology 1997, 144(1):69-73.
53. Mouradian M.M., Heuser I., Baronti F., Chase T.N. Modification of central dopaminergic mechanisms by continuous levodopa therapy for advanced Parkinson's disease. Annals of Neurology 1990, 27(1):18-23.
54. Mouradian M.M., Juncos J.L., Fabbrini G., Chase T.N. Motor fluctuations in Parkinson's disease: Pathogenetic and therapeutic studies. Annals of Neurology 1987, 22(4):475-479.
55. Muñoz A., Carlsson T., Tronci E., Kirik D., Bjorklund A., Carta M. Serotonin neuron-dependent and -independent reduction of dyskinesia by 5-HT1A and 5-HT1B receptor agonists in the rat Parkinson model. Experimental Neurology 2009, 219(1):298-307.
56. Muñoz A., Li Q., Gardoni F., Marcello E., Qin C., Carlsson T., et al. Combined 5-HT1A and 5-HT1B receptor agonists for the treatment of L-DOPA-induced dyskinesia. Brain 2008, 131(Pt 12):3380-3394.
57. Mura A., Jackson D., Manley M., Young S., Groves P. Aromatic L-amino acid decarboxylase immunoreactive cells in the rat striatum: A possible site for the conversion of exogenous L-DOPA to dopamine. Brain Research 1995, 704(1):51-60.
58. Muramatsu S.-I., Fujimoto K.-I., Ikeguchi K., Shizuma N., Kawasaki K., Ono F., et al. Behavioral recovery in a primate model of Parkinson's disease by triple transduction of striatal cells with adeno-associated viral vectors expressing dopamine-synthesizing enzymes. Human Gene Therapy 2002, 13(3):345-354.
59. Musacchio J.M., Wurzburger R.J., D'Angelo G.L. Different molecular forms of bovine adrenal tyrosine hydroxylase. Molecular Pharmacology 1971, 7(2):136-146.
60. Nagatsu T., Levitt M., Udenfriend S. Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis. Journal of Biological Chemistry 1964, 239:2910-2917.
61. Nagatsu T., Yamamoto T., Kato T. A new and highly sensitive voltammetric assay for aromatic L-amino acid decarboxylase activity by high-performance liquid chromatography. Analytical Biochemistry 1979, 100(1):160-165.
62. Nyholm D., Askmark H., Gomes-Trolin C., Knutson T., Lennernäs H., Nyström C., et al. Optimizing levodopa pharmacokinetics: Intestinal infusion versus oral sustained-release tablets. Clinical Neuropharmacology 2003, 26(3):156-163.
63. Okuno S., Fujisawa H. A new mechanism for regulation of tyrosine 3-monooxygenase by end product and cyclic AMP-dependent protein kinase. Journal of Biological Chemistry 1985, 260(5):2633-2635.
64. Olanow C.W., Obeso J.A., Stocchi F. Continuous dopamine-receptor treatment of Parkinson's disease: Scientific rationale and clinical implications. Lancet Neurology 2006, 5(8):677-687.
65. Oxford Biomedica. (2007). Oxford BioMedica initiates phase I/II trial of Prosavin® gene-based treatment for Parkinson's disease.
66. Pfleiderer W. Chemistry and biology of pteridines: Proceedings of the 5th International symposium 1975, 243-949.
67. Ramsey A.J., Fitzpatrick P.F. Effects of phosphorylation on binding of catecholamines to tyrosine hydroxylase: Specificity and thermodynamics. Biochemistry 2000, 39(4):773-778.
68. Shen Y., Muramatsu S.I., Ikeguchi K., Fujimoto K.I., Fan D.S., Ogawa M., et al. Triple transduction with adeno-associated virus vectors expressing tyrosine hydroxylase, aromatic-L-amino-acid decarboxylase, and GTP cyclohydrolase I for gene therapy of Parkinson's disease. Human Gene Therapy 2000, 11(11):1509-1519.
69. Sun M., Kong L., Wang X., Holmes C., Gao Q., Zhang G.-R., et al. Coexpression of tyrosine hydroxylase, GTP cyclohydrolase I, aromatic amino acid decarboxylase, and vesicular monoamine transporter 2 from a helper virus-free herpes simplex virus type 1 vector supports high-level, long-term biochemical and behavioral correction of a rat model of Parkinson's disease. Human Gene Therapy 2004, 15(12):1177-1196.
70. Sun M., Zhang G., Kong L., Holmes C., Wang X., Zhang W., et al. Correction of a rat model of Parkinson's disease by coexpression of tyrosine hydroxylase and aromatic amino acid decarboxylase from a helper virus-free herpes simplex virus type 1 vector. Human Gene Therapy 2003, 14(5):415-424.
71. Tison F., Normand E., Jaber M., Aubert I., Bloch B. Aromatic L-amino-acid decarboxylase (DOPA decarboxylase) gene expression in dopaminergic and serotoninergic cells of the rat brainstem. Neuroscience Letters 1991, 127(2):203-206.
72. Tobin J.E., Cui J., Wilk J.B., Latourelle J.C., Laramie J.M., McKee A.C., et al. Sepiapterin reductase expression is increased in Parkinson's disease brain tissue. Brain Research 2007, 1139:42-47.
73. Uchida K., Tsuzaki N., Nagatsu T., Kohsaka S. Tetrahydrobiopterin-dependent functional recovery in 6-hydroxydopamine-treated rats by intracerebral grafting of fibroblasts transfected with tyrosine hydroxylase cDNA. Developmental Neuroscience 1992, 14(2):173-180.
74. Vigny A., Henry J.P. Bovine adrenal tyrosine hydroxylase: Comparative study of native and proteolyzed enzyme, and their interaction with anions. Journal of Neurochemistry 1981, 36(2):483-489.
75. Wachtel S.R., Bencsics C., Kang U.J. Role of aromatic L-amino acid decarboxylase for dopamine replacement by genetically modified fibroblasts in a rat model of Parkinson's disease. Journal of Neurochemistry 1998, 69(5):2055-2063.
76. Waymire J.C., Haycock J.W. Lack of regulation of aromatic L-amino acid decarboxylase in intact bovine chromaffin cells. Journal of Neurochemistry 2002, 81(3):589-593.
77. Wolff J.A., Fisher L.J., Xu L., Jinnah H.A., Langlais P.J., Iuvone P.M., et al. Grafting fibroblasts genetically modified to produce L-dopa in a rat model of Parkinson disease. Proceedings of the National Academy of Sciences USA 1989, 86(22):9011-9014.
78. Zhou F.-M., Liang Y., Salas R., Zhang L., De Biasi M., Dani J.A. Corelease of dopamine and serotonin from striatal dopamine terminals. Neuron 2005, 46(1):65-74.