Function and dysfunction of leucine-rich repeat kinase 2 (LRRK2): Parkinson's disease and beyond.
Function and dysfunction of leucine-rich repeat kinase 2 (LRRK2): Parkinson's disease and beyond.
复制标题
DOI：
10.5483/bmbrep.2015.48.5.032
复制
发表时间：
2015-05
期刊：
影响因子：
3.8
通讯作者：
Lee BD
中科院分区：
文献类型：
--
作者：
Bae JR;Lee BD
富含亮氨酸重复序列激酶2（LRRK 2）的突变是家族性帕金森病（PD）的最常见原因。因此，LRRK 2在PD中的功能和功能障碍一直是广泛研究的主题。除了PD，越来越多的证据表明LRRK 2与多种疾病相关。全基因组关联研究表明，LRRK 2与克罗恩病（CD）和麻风病有关，携带LRRK 2致病突变的携带者患特定类型癌症的风险增加。LRRK 2突变在阿尔茨海默病（AD）中很少发现，但LRRK 2可能在tau蛋白病中发挥作用。LRRK 2与明显不相关疾病的发病机制之间的关联仍然是个谜，但它可能与LRRK 2未知的多种功能有关。本文综述了LRRK 2与PD、AD、CD、麻风和癌症等多种疾病之间的关系，并讨论了在这些疾病中靶向LRRK 2的可能性。[BMB报告2015; 48（5）：243-248]
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson’s disease (PD). As such, functions and dysfunctions of LRRK2 in PD have been the subject of extensive investigation. In addition to PD, increasing evidence is suggesting that LRRK2 is associated with a wide range of diseases. Genome-wide association studies have implicated LRRK2 in Crohn’s disease (CD) and leprosy, and the carriers with pathogenic mutations of LRRK2 show increased risk to develop particular types of cancer. LRRK2 mutations are rarely found in Alzheimer’s disease (AD), but LRRK2 might play a part in tauopathies. The association of LRRK2 with the pathogenesis of apparently unrelated diseases remains enigmatic, but it might be related to the yet unknown diverse functions of LRRK2. Here, we reviewed current knowledge on the link between LRRK2 and several diseases, including PD, AD, CD, leprosy, and cancer, and discussed the possibility of targeting LRRK2 in such diseases. [BMB Reports 2015; 48(5): 243-248]