Shen Jie
Center for Neurologic Diseases, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Neuron. 2004 Nov 18;44(4):575-7. doi: 10.1016/j.neuron.2004.11.008.
Two papers in this issue of Neuron identify a causative gene, LRRK2, for familial parkinsonism. Several dominantly inherited missense mutations have been identified in a number of families that exhibit a broad spectrum of neuropathological features, including deposition of alpha-synuclein and tau proteins. The LRRK2 gene is predicted to encode a large protein containing leucine-rich repeats and Ras/GTPase, tyrosine kinase-like, and WD40 domains.
本期《神经元》杂志上的两篇论文确定了家族性帕金森病的致病基因LRRK2。在一些表现出广泛神经病理学特征(包括α-突触核蛋白和tau蛋白沉积)的家族中,已鉴定出几种显性遗传的错义突变。LRRK2基因预计编码一种含有富含亮氨酸重复序列以及Ras / GTPase、酪氨酸激酶样和WD40结构域的大蛋白。