LRRK2基因突变导致帕金森病

根据两项最新研究发现：一个刚刚被发现的基因可能是导致帕金森病最常见的原因，可以用于发展基因检测在高危人群中检测基因突变。

研究人员发现：在每60例患者中至少有1例的LRRK2基因发生突变。总体而言，在5％有帕金森病家族史的患者是由该突变引起的，在没有帕金森病家族史患者中由1％～2％是由该突变引起的。研究人员发现一拷贝该基因的突变即可导致疾病发生。这些研究结果报道在2005年1月17日《柳叶刀》在线版。

美国衰老研究院神经基因实验室分子基因实验室主任Andrew Singleton博士解释说：“了解这个突变不仅对家族性发病的帕金森病十分重要，而且对典型的散发性病例同样十分重要，这些散发性病例通常没有家族史。该基因突变有助于早期检测帕金森病。对这个基因如何发挥作用开展进一步研究或许能够帮助研究人员设计新的治疗方法。”

LRRK2是由Singleton博士和同事发现的。这个基因编码蛋白叫做dardarin，这个名字来自巴斯克语dardara，它的意思是震颤，震颤是帕金森病的主要症状。这个基因是研究人员从12号染色体PARK8区域分离出来的，PARK8区域是研究人员研究了西班牙巴斯克地区或者英格兰的5个帕金森病史家族发现的。

Genetic Mutation May Lead to Test for Parkinson’s
 
A recently discovered gene that is probably the most common genetic cause of Parkinson’s disease, according to two new studies, could lead to the development of a genetic test to detect the mutation in people at risk.

Investigators found that a mutation in the gene LRRK2 appears to occur in at least one of every 60 people who have the disease. Overall, the mutation could be responsible for up to 5% of Parkinson’s disease in people with a family history of the disorder, and may account for 1? -2% of cases in people who do not have a family history of the disease. The researchers found a mutation in one copy of the gene can lead to the disease. These findings were reported in the January 17, 2005, online issue of The Lancet.

“Knowing that this mutation is not only important in familial forms of disease but in typical sporadic disease, where there is no strong family history, could lead to earlier detection of Parkinson’s disease,” explained Andrew Singleton, Ph.D., chief of the molecular genetics unit in the Laboratory of Neurogenetics of the U.S. National Institute of Aging (NIA, Bethesda, MD, USA). “Further study of how this gene works also might help scientists identify new treatments.”

LRRK2 was discovered by Dr. Singleton and colleagues. The gene encodes a protein named dardarin from the Basque work dardara, which means tremor, a major symptom of Parkinson’s disease. The gene was isolated on a region of chromosome 12 called PARK8 by investigators who studied five families with a history of Parkinson’s disease who lived in the Basque region of Spain or in England.