Neurogenetics

, Volume 9, Issue 4, pp 263–269

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
Original Article

DOI: 10.1007/s10048-008-0138-0

Cite this article as:
Choi, J.M., Woo, M.S., Ma, HI. et al. Neurogenetics (2008) 9: 263. doi:10.1007/s10048-008-0138-0

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.

Keywords

Parkinson diseaseGenetics of Parkinson diseaseMutation of Mendelian genesSusceptibility genes of Parkinson diseaseEarly-onset Parkinson disease

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Jung Mi Choi
    • 1
  • Myoung Soo Woo
    • 1
  • Hyeo-Il Ma
    • 2
  • Suk Yun Kang
    • 2
  • Young-Hee Sung
    • 3
  • Seok Woo Yong
    • 4
  • Sun Ju Chung
    • 5
  • Joong-Seok Kim
    • 6
  • Hae-won Shin
    • 7
  • Chul Hyoung Lyoo
    • 7
  • Phil Hyu Lee
    • 7
  • Jong Sam Baik
    • 8
  • Sang-Jin Kim
    • 8
  • Mee Young Park
    • 9
  • Young Ho Sohn
    • 7
  • Jin-Ho Kim
    • 10
  • Jae Woo Kim
    • 11
  • Myung Sik Lee
    • 7
  • Myoung Chong Lee
    • 5
  • Dong-Hyun Kim
    • 12
  • Yun Joong Kim
    • 1
    • 2
  1. 1.Department of Neurology, Hallym University Sacred Heart Hospital, ILSONG Institute of Life ScienceHallym UniversityAnyang-siKorea
  2. 2.Department of Neurology, College of MedicineHallym UniversityAnyang-siSouth Korea
  3. 3.Department of Neurology, College of MedicineGachon UniversityIncheonSouth Korea
  4. 4.Department of Neurology, School of MedicineAjou UniversitySuwonSouth Korea
  5. 5.Department of NeurologyAsan Medical Center, University of Ulsan College of MedicineSeoulSouth Korea
  6. 6.Department of Neurology, College of MedicineThe Catholic University of KoreaSeoulSouth Korea
  7. 7.Department of Neurology, College of MedicineYonsei UniversitySeoulSouth Korea
  8. 8.Department of Neurology, College of MedicineInje UniversityGimhaeSouth Korea
  9. 9.Department of Neurology, College of MedicineYeungnam UniversityGyeongsanSouth Korea
  10. 10.Department of Neurology, College of MedicineChosun UniversityGwangjuSouth Korea
  11. 11.Department of Neurology, College of MedicineDong-A UniversityBusanSouth Korea
  12. 12.Department of Social and Preventive Medicine, College of MedicineHallym UniversityAnyang-siSouth Korea