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 KimYun Joong Kim

Research output: Contribution to journalArticle

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Abstract

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 ≤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.

Original languageEnglish
Pages (from-to)263-269
Number of pages7
JournalNeurogenetics
Volume9
Issue number4
DOIs
Publication statusPublished - 2008 Oct 1

Fingerprint

Parkinson Disease
Mutation
Exons
Genes
Republic of Korea
Gene Dosage
Nonsense Codon
Movement Disorders
Mutation Rate
Missense Mutation
Ligation
Alleles

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience

Cite this

Choi, J. M., Woo, M. S., Ma, H. I., Kang, S. Y., Sung, Y. H., Yong, S. W., ... Kim, Y. J. (2008). Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics, 9(4), 263-269. https://doi.org/10.1007/s10048-008-0138-0
Choi, Jung Mi ; Woo, Myoung Soo ; Ma, Hyeo Il ; Kang, Suk Yun ; Sung, Young Hee ; Yong, Seok Woo ; Chung, Sun Ju ; Kim, Joong Seok ; Shin, Hae Won ; Lyoo, Chul Hyoung ; Lee, Phil Hyu ; Baik, Jong Sam ; Kim, Sang Jin ; Park, Mee Young ; Sohn, Young Ho ; Kim, Jin Ho ; Kim, Jae Woo ; Lee, Myung Sik ; Lee, Myoung Chong ; Kim, Dong Hyun ; Kim, Yun Joong. / Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. In: Neurogenetics. 2008 ; Vol. 9, No. 4. pp. 263-269.
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abstract = "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 ≤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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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 2008, 'Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease', Neurogenetics, vol. 9, no. 4, pp. 263-269. https://doi.org/10.1007/s10048-008-0138-0

Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. / Choi, Jung Mi; Woo, Myoung Soo; Ma, Hyeo Il; Kang, Suk Yun; Sung, Young Hee; Yong, Seok Woo; Chung, Sun Ju; Kim, Joong Seok; Shin, Hae Won; Lyoo, Chul Hyoung; Lee, Phil Hyu; Baik, Jong Sam; Kim, Sang Jin; Park, Mee Young; Sohn, Young Ho; Kim, Jin Ho; Kim, Jae Woo; Lee, Myung Sik; Lee, Myoung Chong; Kim, Dong Hyun; Kim, Yun Joong.

In: Neurogenetics, Vol. 9, No. 4, 01.10.2008, p. 263-269.

Research output: Contribution to journalArticle

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AU - Sohn, Young Ho

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AU - Kim, Jae Woo

AU - Lee, Myung Sik

AU - Lee, Myoung Chong

AU - Kim, Dong Hyun

AU - Kim, Yun Joong

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Choi JM, Woo MS, Ma HI, Kang SY, Sung YH, Yong SW et al. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics. 2008 Oct 1;9(4):263-269. https://doi.org/10.1007/s10048-008-0138-0