Genetic studies of the protein kinase AKT1 in Parkinson's disease
Genetic studies of the protein kinase AKT1 in Parkinson's disease
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DOI：
10.1016/j.neulet.2011.06.038
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发表时间：
2011-08
影响因子：
2.5
通讯作者：
C. Ran;M. Westerlund;A. Anvret;T. Willows;O. Sydow;D. Galter;A. C. Belin
中科院分区：
文献类型：
--
作者：
C. Ran;M. Westerlund;A. Anvret;T. Willows;O. Sydow;D. Galter;A. C. Belin
蛋白激酶AKT1属于Akt家族，是细胞生长和存活的有效介质，当磷酸化时完全激活。研究发现，与对照组相比，帕金森病患者多巴胺能细胞中AKT家族的磷酸化程度较低，这可能会影响细胞存活。一些出版物支持AKT1在包括双相情感障碍和精神分裂症在内的多巴胺能系统疾病中的含义。2008年，一项在希腊帕金森病病例对照材料中进行的关联研究报告了一种保护性AKT1单倍型的鉴定。基于他们的工作，我们在瑞典帕金森氏症队列中进行了一项重复研究。我们在243名帕金森患者和315名对照的病例对照材料中分型了四个单核苷酸多态性（snp）： rs2494743、rs2498788、rs2494746和rs1130214。我们没有发现单个snp或任何单倍型与帕金森病有任何关联。与之前发表的结果相反，我们的数据不支持AKT1基因变异可以预防帕金森病的假设。
The protein kinase AKT1 belongs to the Akt family and is a potent mediator of cell growth and survival and fully activated when phosphorylated. The AKT family has been found to be phosphorylated to a lesser extent in the dopaminergic cells of Parkinson's disease patients compared to control individuals, which might influence cell survival. Several publications support the implication of AKT1 in disorders of the dopaminergic system including bipolar disease and schizophrenia. In 2008 an association study performed in a Greek Parkinson's disease case–control material reported the identification of a protective AKT1 haplotype. Based on their work we have performed a replication study in a Swedish Parkinson's disease cohort. We genotyped the four single nucleotide polymorphims (SNPs): rs2494743, rs2498788, rs2494746 and rs1130214 in a case–control material consisting of 243 Parkinson patients and 315 controls. We did not find any associations with Parkinson's disease for either the individual SNPs or any of the haplotypes. In contrast to previously published results, our data do not support the hypothesis of genetic variants in AKT1 confering protection against Parkinson's disease.