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Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.
Neurogenetics. 2008 Oct; 9(4):263-9.N

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 <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.

Authors+Show Affiliations

Department of Neurology, Hallym University Sacred Heart Hospital, ILSONG Institute of Life Science, Hallym University, Dongan-gu, Anyang-si, Gyeonggi-do, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18704525

Citation

Choi, Jung Mi, et al. "Analysis of PARK Genes in a Korean Cohort of Early-onset Parkinson Disease." Neurogenetics, vol. 9, no. 4, 2008, pp. 263-9.
Choi JM, Woo MS, Ma HI, et al. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics. 2008;9(4):263-9.
Choi, J. M., Woo, M. S., Ma, H. I., Kang, S. Y., Sung, Y. H., Yong, S. W., Chung, S. J., Kim, J. S., Shin, H. W., Lyoo, C. H., Lee, P. H., Baik, J. S., Kim, S. J., Park, M. Y., Sohn, Y. H., Kim, J. H., Kim, J. W., Lee, M. S., Lee, M. C., ... Kim, Y. J. (2008). Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics, 9(4), 263-9. https://doi.org/10.1007/s10048-008-0138-0
Choi JM, et al. Analysis of PARK Genes in a Korean Cohort of Early-onset Parkinson Disease. Neurogenetics. 2008;9(4):263-9. PubMed PMID: 18704525.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. AU - Choi,Jung Mi, AU - Woo,Myoung Soo, AU - Ma,Hyeo-Il, AU - Kang,Suk Yun, AU - Sung,Young-Hee, AU - Yong,Seok Woo, AU - Chung,Sun Ju, AU - Kim,Joong-Seok, AU - Shin,Hae-won, AU - Lyoo,Chul Hyoung, AU - Lee,Phil Hyu, AU - Baik,Jong Sam, AU - Kim,Sang-Jin, AU - Park,Mee Young, AU - Sohn,Young Ho, AU - Kim,Jin-Ho, AU - Kim,Jae Woo, AU - Lee,Myung Sik, AU - Lee,Myoung Chong, AU - Kim,Dong-Hyun, AU - Kim,Yun Joong, Y1 - 2008/08/15/ PY - 2008/05/12/received PY - 2008/07/07/accepted PY - 2008/8/16/pubmed PY - 2009/6/16/medline PY - 2008/8/16/entrez SP - 263 EP - 9 JF - Neurogenetics JO - Neurogenetics VL - 9 IS - 4 N2 - 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. SN - 1364-6753 UR - https://www.unboundmedicine.com/medline/citation/18704525/Analysis_of_PARK_genes_in_a_Korean_cohort_of_early_onset_Parkinson_disease_ L2 - https://dx.doi.org/10.1007/s10048-008-0138-0 DB - PRIME DP - Unbound Medicine ER -