The LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics

摘要

The role of genetic factors in the etiology of Parkinson's disease (PD) has long been considered negligible, but a series of recent discoveries are dramatically changing this view. Two studies recently published in The New England Journal of Medicine report an astonishing high prevalence of a single mutation in leucine-rich repeat kinase 2 (LRRK2), G2019S, in North African Arabs and Ashkenazi Jews with PD.Mutations in the LRRK2 gene were first identified in 2004 in families with autosomal-dominant PD;soon thereafter, the G2019S mutation (c.G6055A) was identified by several groups as a common cause of this disease, being found not only in approx 5-6% of familial PD but also in approx 1-2%of sporadic PD in several European and US populations.