Cho Hyun Jin, Yu Jia, Xie Chengsong, Rudrabhatla Parvathi, Chen Xi, Wu Junbing, Parisiadou Loukia, Liu Guoxiang, Sun Lixin, Ma Bo, Ding Jinhui, Liu Zhihua, Cai Huaibin
Transgenics Section, Laboratory of Neurogenetics National Institute on Aging National Institutes of Health, Bethesda, MD, USA.
Laboratory of Neurochemistry and Laboratory of Neurobiology National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
EMBO J. 2014 Oct 16;33(20):2314-31. doi: 10.15252/embj.201487807. Epub 2014 Sep 8.
Leucine-rich repeat kinase 2 (LRRK2) has been associated with Parkinson's disease (PD) and other disorders. However, its normal physiological functions and pathogenic properties remain elusive. Here we show that LRRK2 regulates the anterograde ER-Golgi transport through anchoring Sec16A at the endoplasmic reticulum exit sites (ERES). LRRK2 interacted and co-localized with Sec16A, a key protein in the formation of ERES. Lrrk2 depletion caused a dispersion of Sec16A from ERES and impaired ER export. In neurons, LRRK2 and Sec16A showed extensive co-localization at the dendritic ERES (dERES) that locally regulate the transport of proteins to the dendritic spines. A loss of Lrrk2 affected the association of Sec16A with dERES and impaired the activity-dependent targeting of glutamate receptors onto the cell/synapse surface. Furthermore, the PD-related LRRK2 R1441C missense mutation in the GTPase domain interfered with the interaction of LRRK2 with Sec16A and also affected ER-Golgi transport, while LRRK2 kinase activity was not required for these functions. Therefore, our findings reveal a new physiological function of LRRK2 in ER-Golgi transport, suggesting ERES dysfunction may contribute to the pathogenesis of PD.
富含亮氨酸重复序列激酶2(LRRK2)与帕金森病(PD)及其他疾病相关。然而,其正常生理功能和致病特性仍不清楚。在此我们表明,LRRK2通过在内质网出口位点(ERES)锚定Sec16A来调节内质网-高尔基体的顺向运输。LRRK2与Sec16A相互作用并共定位,Sec16A是ERES形成中的关键蛋白。Lrrk2缺失导致Sec16A从ERES分散,并损害内质网输出。在神经元中,LRRK2和Sec16A在树突状ERES(dERES)处广泛共定位,dERES局部调节蛋白质向树突棘的运输。Lrrk2缺失影响Sec16A与dERES的结合,并损害谷氨酸受体向细胞/突触表面的活性依赖性靶向。此外,GTPase结构域中与PD相关的LRRK2 R1441C错义突变干扰了LRRK2与Sec16A的相互作用,也影响内质网-高尔基体运输,而这些功能不需要LRRK2激酶活性。因此,我们的发现揭示了LRRK2在内质网-高尔基体运输中的新生理功能,提示ERES功能障碍可能导致PD的发病机制。