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Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease

 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 
 NEUROGENETICS, Vol.9(4) : 263-269, 2008 
Journal Title
Issue Date
Parkinson disease ; Genetics of Parkinson disease ; Mutation of Mendelian genes ; Susceptibility genes of Parkinson disease ; Early-onset Parkinson disease
Mutations in five PARK genes (SNCA, PARKIN, DJ-1, PINK1, and LRRK2) are well-established genetic causes of Parkinson disease (PD). Recently, G2385R substitution in LRRK2 has been determined as a susceptibility allele in Asian PD. The objective of this study is to determine the frequency of mutations in these PARK genes in a Korean early-onset Parkinson disease (EOPD) cohort. The authors sequenced 35 exons in SNCA, PARKIN, DJ-1, PINK1, and LRRK2 in 72 unrelated EOPD (age-at-onset <or=50) recruited from ten movement disorders clinics in South Korea. Gene dosage change of the aforementioned genes was studied using multiple ligation-dependent probe amplification. We found four patients with PARKIN mutations, which were homozygous deletion of exon 4, compound heterozygous deletion of exon 2 and exon 4, heterozygous deletion of exon 4, and heterozygous nonsense mutation (Q40X). Four patients had PINK1 mutations; a compound heterozygous mutation (N367S and K520RfsX522) and three heterozygous mutations (G32R, R279H, and F385L). A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance. Nine patients (12.5%) had heterozygous G2385R polymorphism of LRRK2, whereas none had G2019S mutation. However, no mutations were detected in DJ-1 and UCHL1 in our series. We identified genetic variants in PARKIN, PINK1, LRRK2, and SNCA as a cause or genetic risk factors for PD in 25% of Korean EOPD, and mutation of PARKIN was the most common genetic cause
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lyoo, Chul Hyoung(류철형) ORCID logo https://orcid.org/0000-0003-2231-672X
Sohn, Young Ho(손영호) ORCID logo https://orcid.org/0000-0001-6533-2610
Lee, Myung Sik(이명식) ORCID logo https://orcid.org/0000-0002-8413-1854
Lee, Phil Hyu(이필휴) ORCID logo https://orcid.org/0000-0001-9931-8462
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