Von Coelln Rainer, Thomas Bobby, Savitt Joseph M, Lim Kah Leong, Sasaki Masayuki, Hess Ellen J, Dawson Valina L, Dawson Ted M
Institute for Cell Engineering, and Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10744-9. doi: 10.1073/pnas.0401297101. Epub 2004 Jul 12.
Parkinson's disease (PD) is the most common neurodegenerative movement disorder and is characterized pathologically by degeneration of catecholaminergic neurons of the substantia nigra pars compacta and locus coeruleus, among other regions. Autosomal-recessive juvenile Parkinsonism (ARJP) is caused by mutations in the PARK2 gene coding for parkin and constitutes the most common familial form of PD. The majority of ARJP-associated parkin mutations are thought to be loss of function-mutations; however, the pathogenesis of ARJP remains poorly understood. Here, we report the generation of parkin null mice by targeted deletion of parkin exon 7. These mice show a loss of catecholaminergic neurons in the locus coeruleus and an accompanying loss of norepinephrine in discrete regions of the central nervous system. Moreover, there is a dramatic reduction of the norepinephrine-dependent startle response. The nigrostriatal dopaminergic system does not show any impairment. This mouse model will help gain a better understanding of parkin function and the mechanisms underlying parkin-associated PD.
帕金森病(PD)是最常见的神经退行性运动障碍,其病理特征是黑质致密部和蓝斑等区域的儿茶酚胺能神经元变性。常染色体隐性遗传性青少年帕金森病(ARJP)由编码帕金蛋白的PARK2基因突变引起,是最常见的家族性帕金森病形式。大多数与ARJP相关的帕金蛋白突变被认为是功能丧失性突变;然而,ARJP的发病机制仍知之甚少。在此,我们报告通过靶向缺失帕金蛋白外显子7生成帕金蛋白基因敲除小鼠。这些小鼠蓝斑中的儿茶酚胺能神经元缺失,同时中枢神经系统离散区域的去甲肾上腺素也随之减少。此外,去甲肾上腺素依赖性惊吓反应显著降低。黑质纹状体多巴胺能系统未显示任何损伤。该小鼠模型将有助于更好地理解帕金蛋白的功能以及帕金蛋白相关帕金森病的潜在机制。