左旋多巴药物基因组学的研究进展

摘要/Abstract

摘要： 左旋多巴被认为是治疗帕金森病的金标准,本文综述了多个相关基因的遗传多态性对左旋多巴药代动力学、药效学及不良反应的影响,以期为指导左旋多巴的临床个体化用药提供基础。

Abstract: Levodopa is considered to be the 'gold standard' treatment for Parkinson's disease. This review aimed to summarize the influence of genetic polymorphisms on levodopa pharmacokinetics, pharmacodynamics and adverse reactions. In order to provide the basis for guide the clinical individualized medication of levodopa .

Key words: Levodopa, Genetic polymorphisms, Parkinson's disease

中图分类号:

R968

宁巍, 刘洁. 左旋多巴药物基因组学的研究进展[J]. 中国临床药理学与治疗学, 2013, 18(4): 455-460.

NING Wei, LIU Jie. Research advances in pharmacogenomics of levodopa[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2013, 18(4): 455-460.

参考文献

[1] Ahlskog JE, Muenter MD. Frequency of levodopa-related dyskinesias and motor fluctuations as estimated from the cumulative literature [J]. Mov Disord, 2001,16(3): 448-458.
[2] 沈杰, 谢海棠,刘昭前, 等. 遗传药理学与高血压药物治疗进展[J]. 中国临床药理学与治疗学, 2010,15(6): 705-714.
[3] Lotta T, Vidgren J, Tilgmann C,et al. Kinetics of human soluble and membrane-bound catechol O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme [J]. Biochemistry, 1995, 34(13): 4202-4210.
[4] 戴洪, 袁凤仪, 邵明, 等. 帕金森病患者儿茶酚氧位甲基转移酶基因多态性与左旋多巴诱导的运动障碍的关系[J]. 中华老年心脑血管病杂志, 2005,7(3): 178-180.
[5] de Lau LM, Verbaan D, Marinus J et al. Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease [J]. Mov Disord, 2012,27(1): 132-135.
[6] Lee MS, Lyoo CH, Ulmanen I, et al.Genotypes of catechol-O-methyltransferase and response to levodopa treatment in patients with Parkinson's disease [J]. Neurosci Lett, 2001,298(2): 131- 134.
[7] Watanabe M, Harada S, Nakamura T , et al. Association between catechol-O-methyltransferase gene polymorphisms and wearing-off and dyskinesia in Parkinson's disease [J]. Neuropsychobiology, 2003, 48(4): 190-193.
[8] Contin M, Martinelli P,Mochi M ,et al. Genetic polymorphism of catechol-O-methyltransferase and levodopa pharmacokinetic-pharmacodynamic pattern in patients with Parkinson's disease [J]. Mov Disord, 2005, 20(6): 734-739.
[9] Lin CH, Wang CL,Huang PF,et al.Genetic polymorphism of catechol O-methyltransferase and pharmacokinetics of levodopa in healthy Chinese subjects [J]. Methods Find Exp Clin Pharmacol, 2009,31(6): 389-395.
[10] Corvol JC, Bonnet C, Charbonnier-Beaupel F,et al.The COMT Val158Met polymorphism affects the response to entacapone in Parkinson's disease: a randomized crossover clinical trial [J]. Ann Neurol, 2011, 69(1): 111-118.
[11] Bialecka M, Kurzawski M,Klodowska-Duda G,et al.The association of functional catechol-O-methyltransferase haplotypes with risk of Parkinson's disease, levodopa treatment response, and complications [J]. Pharmacogenet Genomics, 2008,18(9): 815-821.
[12] Balciuniene J, Emilsson L, Oreland, L et al.Investigation of the functional effect of monoamine oxidase polymorphisms in human brain [J]. Hum Genet, 2002,110(1): 1-7.
[13] Torkaman-Boutorabi A,Choopani S,ShahidiG A, et al. The catechol-O-methyltransferase and monoamine oxidase B polymorphisms and levodopa therapy in the Iranian patients with sporadic Parkinson's disease[J]. Acta Neurobiol Exp, 2012,72(3): 272-82.
[14] Takahashi H, Takano H, Kodaka F,et al.Contribution of dopamine D1 and D2 receptors to amygdala activity in human [J]. J Neurosci, 2010, 30(8): 3043-3047.
[15] Bartres-Faz D, Marti M J,Junque C ,et al.Increased cerebral activity in Parkinson's disease patients carrying the DRD2 TaqIA A1 allele during a demanding motor task: a compensatory mechanism [J] ? Genes Brain Behav, 2007, 6(6): 588-592.
[16] Thompson J, Thomas N,Singleton A,et al.D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele [J]. Pharmacogenetics, 1997,7(6): 479-484.
[17] Noble EP.The D2 dopamine receptor gene: a review of association studies in alcoholism and phenotypes[J]. Alcohol, 1998, 16(1): 33-45.
[18] Wang J, Liu ZL,Chen B.Association study of dopamine D2, D3 receptor gene polymorphisms with motor fluctuations in PD [J]. Neurology, 2001,56(12): 1757-1759.
[19] Rissling I,Geller F, Bandmann O, et al. Dopamine receptor gene polymorphisms in Parkinson's disease patients reporting "sleep attacks" [J]. Mov Disord, 2004,19(11): 1279-1284.
[20] Paus S, Grunewald A,Klein C, et al.The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease [J]. Mov Disord, 2008,23(4): 599-602.
[21] Hirvonen MM, Laakso A,Nagren K, et al. C957T polymorphism of dopamine D2 receptor gene affects striatal DRD2 in vivo availability by changing the receptor affinity [J]. Synapse, 2009,63(10): 907-912.
[22] Lundstrom K, Turpin MP. Proposed schizophrenia-related gene polymorphism: expression of the Ser9Gly mutant human dopamine D3 receptor with the Semliki Forest virus system [J]. Biochem Biophys Res Commun, 1996, 225(3): 1068-1072.
[23] Kaiser R, Hofer A, Grapengiesser A, et al. L -dopa-induced adverse effects in PD and dopamine transporter gene polymorphism [J]. Neurology, 2003,60(11): 1750-1755.
[24] Paus S,Gadow F, Knapp M, et al. Motor complications in patients form the German Competence Network on Parkinson's disease and the DRD3 Ser9Gly polymorphism [J]. Mov Disord, 2009,24(7): 1080-1084.
[25] Ma CX, Adjei AA,Salavaggione OE, et al.Human aromatase: gene resequencing and functional genomics [J]. Cancer Res, 2005, 65(23): 11071-11082.
[26] Contin M, Martinelli P, Mochi M, et al. Dopamine transporter gene polymorphism, spect imaging, and levodopa response in patients with Parkinson disease [J].Clin Neuropharmacol, 2004,27(3): 111-115.
[27] Bamne MN, Talkowski ME,Chowdari KV, et al.Functional analysis of upstream common polymorphisms of the dopamine transporter gene [J]. Schizophr Bull, 2010,36(5): 977-982.
[28] Baquet ZC, Bickford PC, Jones KR, et al.Brain-derived neurotrophic factor is required for the establishment of the proper number of dopaminergic neurons in the substantia nigra pars compacta [J]. J Neurosci, 2005,25(26): 6251-6259.
[29] Zhang H, Ozbay F, Lappalainen J, et al.Brain derived neurotrophic factor (BDNF) gene variants and Alzheimer's disease, affective disorders, posttraumatic stress disorder, schizophrenia, and substance dependence [J]. Am J Med Genet B Neuropsychiatr Genet, 2006,141B(4): 387- 393.
[30] Chen L, WangY,Xiao H, et al. The 712A/G polymorphism of Brain-derived neurotrophic factor is associated with Parkinson's disease but not Major Depressive Disorder in a Chinese Han population [J]. Biochem Biophys Res Commun, 2011,408(2): 318-321.
[31] Egan MF, Kojima M,Callicott JH,et al.The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function [J]. Cell, 2003,112(2): 257-269.
[32] Foltynie T, Cheeran B,Williams-Gray CH, et al. BDNF val66met influences time to onset of levodopa induced dyskinesia in Parkinson's disease [J]. J Neurol Neurosurg Psychiatry, 2009, 80(2): 141-144.
[33] Guerini FR, Beghi E, Riboldazzi G, et al. BDNF Val66Met polymorphism is associated with cognitive impairment in Italian patients with Parkinson's disease [J]. Eur J Neurol, 2009,16(11): 1240-1245.
[34] Gao L,Diaz-Corrales FJ, Carrillo F, et al. Brain-derived neurotrophic factor G196A polymorphism and clinical features in Parkinson's disease [J]. Acta Neurol Scand, 2010,122(1): 41-45.
[35] Karakasis C, Kalinderi K, Katsarou Z, et al.Association of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism with Parkinson's disease in a Greek population [J]. J Clin Neurosci, 2011, 18(12): 1744-1745.
[36] Becker ML, Visser LE,van Schaik RH, et al. Genetic variation in the organic cation transporter 1 is associated with metformin response in patients with diabetes mellitus [J]. Pharmacogenomics J, 2009, 9(4): 242-247.
[37] Becker M L, Visser LE, van Schaik RH, et al.OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users [J]. Neurogenetics, 2011, 12(1): 79-82.
[38] Molchadski I, Korczyn AD,Cohen OS, et al.The role of apolipoprotein E polymorphisms in levodopa-induced dyskinesia [J]. Acta Neurol Scand, 2011, 123(2): 117-121.