BACKGROUND: A number of causative mutations such as alpha-synuclein, parkin, UCHL1, Pink-1, DJ-1 have been identified in Parkinson's disease (PD). They are usually found in the familial cases. One mutation of great interest is the G2019S mutation in the LRRK2 gene, which has been reported in both familial and sporadic PD. Its prevalence has been reported to vary markedly among different races. We examined the prevalence of the G2019S mutation in the Korean PD population for genetic study planning. METHODS: We conducted a genetic analysis of the G2019S mutation by standard PCR and restriction digestion method. 453 PD patients were studied, 34% of whom had an age at onset of < 50 years and 3.8% had a positive family history. RESULTS: None of the 453 study subjects carried the G2019S mutation. CONCLUSIONS: Our result confirms previous reports that the G2019S mutation is rare among PD patients in the Asian population. This result supports the notion that the prevalence of this LRRK2 mutation is population specific, and that there may be a founder effect within western populations.
BACKGROUND: A number of causative mutations such as alpha-synuclein, parkin, UCHL1, Pink-1, DJ-1 have been identified in Parkinson's disease (PD). They are usually found in the familial cases. One mutation of great interest is the G2019S mutation in the LRRK2 gene, which has been reported in both familial and sporadic PD. Its prevalence has been reported to vary markedly among different races. We examined the prevalence of the G2019S mutation in the Korean PD population for genetic study planning. METHODS: We conducted a genetic analysis of the G2019S mutation by standard PCR and restriction digestion method. 453 PDpatients were studied, 34% of whom had an age at onset of < 50 years and 3.8% had a positive family history. RESULTS: None of the 453 study subjects carried the G2019S mutation. CONCLUSIONS: Our result confirms previous reports that the G2019S mutation is rare among PDpatients in the Asian population. This result supports the notion that the prevalence of this LRRK2 mutation is population specific, and that there may be a founder effect within western populations.
Authors: Jung Mi Choi; Myoung Soo Woo; Hyeo-Il Ma; Suk Yun Kang; Young-Hee Sung; Seok Woo Yong; Sun Ju Chung; Joong-Seok Kim; Hae-won Shin; Chul Hyoung Lyoo; Phil Hyu Lee; Jong Sam Baik; Sang-Jin Kim; Mee Young Park; Young Ho Sohn; Jin-Ho Kim; Jae Woo Kim; Myung Sik Lee; Myoung Chong Lee; Dong-Hyun Kim; Yun Joong Kim Journal: Neurogenetics Date: 2008-08-15 Impact factor: 2.660