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

Choi, JM; Woo, MS; Ma, HI; Kang, SY; Sung, YH; Yong, SW; Chung, SJ; Kim, JS; Shin, HW; Lyoo, CH; Lee, PH; Baik, JS; Kim, SJ; Park, MY; Sohn, YH; Kim, JH; Kim, JW; Lee, MS; Lee, MC; Kim, DH; Kim, YJ
Neurogenetics, 9(4):263-269, 2008
Journal Title
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.
MeSH terms
AdolescentAdultAge of OnsetBase SequenceCase-Control StudiesCohort StudiesDNA Mutational AnalysisDNA Primers/geneticsFemaleGene DosageHeterozygoteHomozygoteHumansIntracellular Signaling Peptides and Proteins/geneticsKoreaMaleMiddle AgedMutation*Oncogene Proteins/geneticsParkinson Disease/genetics*Polymerase Chain ReactionProtein Kinases/geneticsProtein-Serine-Threonine Kinases/geneticsUbiquitin-Protein Ligases/geneticsYoung Adultalpha-Synuclein/genetics
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Journal Papers > School of Medicine / Graduate School of Medicine > Neurology
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용, 석우
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