根據兩項最新研究發(fā)現：一個剛剛被發(fā)現的基因可能是導致帕金森病最常見的原因，可以用于發(fā)展基因檢測在高危人群中檢測基因突變。

研究人員發(fā)現：在每60例患者中至少有1例的LRRK2基因發(fā)生突變。總體而言，在5％有帕金森病家族史的患者是由該突變引起的，在沒有帕金森病家族史患者中由1％～2％是由該突變引起的。研究人員發(fā)現一拷貝該基因的突變即可導致疾病發(fā)生。這些研究結果報道在2005年1月17日《柳葉刀》在線版。

美國衰老研究院神經基因實驗室分子基因實驗室主任Andrew Singleton博士解釋說：“了解這個突變不僅對家族性發(fā)病的帕金森病十分重要，而且對典型的散發(fā)性病例同樣十分重要，這些散發(fā)性病例通常沒有家族史。該基因突變有助于早期檢測帕金森病。對這個基因如何發(fā)揮作用開展進一步研究或許能夠幫助研究人員設計新的治療方法。”

LRRK2是由Singleton博士和同事發(fā)現的。這個基因編碼蛋白叫做dardarin，這個名字來自巴斯克語dardara，它的意思是震顫，震顫是帕金森病的主要癥狀。這個基因是研究人員從12號染色體PARK8區(qū)域分離出來的，PARK8區(qū)域是研究人員研究了西班牙巴斯克地區(qū)或者英格蘭的5個帕金森病史家族發(fā)現的。

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.