젊은 나이에 산발성 파킨슨병이 생긴 한국인 환자의 Parkin 유전자 변이

Abstract

Background: Abnormalities of the parkin gene is the most frequently found genetic abnormality in patients with sporadic young age onset of Parkinson's disease (PD). We investigated the frequency of abnormalities of the parkin gene in Korean patients with young age onset PD (YOPD). Methods: This study included 18 patients (M:F=10:8) who developed PD before the age of 45. DNA was isolated from peripheral blood leukocytes. Exonal deletion and nucleotide sequence changes in the parkin gene was searched by quantitative PCR and sequencing of all coding regions. Results: Only one patient had a heterozygous mutation at the nucleotide position 1473 in exon 12 (A1473C). The remaining 17 patients showed no mutations in the coding region of the parkin gene. In all 18 patients, we could not find any compound heterozygotic as well as homozygotic exonal deletion. The patient who had the heterozygotic point mutation in the parkin gene did not present any clinical features differentiating the patient from the others with YOPD. The frequency of parkin mutation in patients with YOPD in our series was 5.6 percent. Conclusions: In Korean patients with YOPD, the frequency of parkin mutation seems to be lower than that of other ethnic groups. Further studies with a larger number of patients with YOPD are needed to support this suggestion.