Bras Jose, Paisan-Ruiz Coro, Guerreiro Rita, Ribeiro Maria Helena, Morgadinho Ana, Januario Cristina, Sidransky Ellen, Oliveira Catarina, Singleton Andrew
Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
Neurobiol Aging. 2009 Sep;30(9):1515-7. doi: 10.1016/j.neurobiolaging.2007.11.016. Epub 2007 Dec 21.
Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame, as well as intron/exon boundaries, of the glucocerebrosidase gene, in a total of 230 patients and 430 controls. We have found an increased number of Parkinson disease patients presenting mutations in GBA when compared to controls. These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease.
编码溶酶体降解酶β-葡萄糖脑苷脂酶的基因突变最近被认为与帕金森病的发生有关。在此，我们报告了在一组葡萄牙帕金森病患者以及年龄匹配的健康对照人群中，对上述基因进行突变检测的结果。此次筛查通过对230例患者和430例对照者的葡萄糖脑苷脂酶基因的完整开放阅读框以及内含子/外显子边界进行测序来完成。我们发现，与对照组相比，帕金森病患者中携带GBA基因突变的人数有所增加。这些结果，连同近期的文献，清楚地表明了葡萄糖脑苷脂酶在帕金森病发生过程中的作用。
