Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease
Journal of Clinical Neurology
;
: 244-248, 2014.
Article
in English
| WPRIM
| ID: wpr-123052
ABSTRACT
BACKGROUND AND PURPOSE:
There is some controversy regarding heterozygous mutations of the gene encoding parkin (PARK2) as risk factors for Parkinson's disease (PD), and all previous studies have been performed in non-Asian populations. Dosage mutation of PARK2, rather than a point mutation or small insertion/deletion mutation, was reported to be a risk factor for familial PD; dosage mutation of PARK2 is common in Asian populations.METHODS:
We performed a gene-dosage analysis of PARK2 using real-time polymerase chain reaction for 189 patients with early-onset PD or familial PD, and 191 control individuals. In the case of PD patients with heterozygous gene-dosage mutation, we performed a sequencing analysis to exclude compound heterozygous mutations. The association between heterozygous mutation of PARK2 and PD was tested.RESULTS:
We identified 22 PD patients with PARK2 mutations (11.6%). Five patients (2.6%) had compound heterozygous mutations, and 13 patients (6.9%) had a heterozygous mutation. The phase could not be determined in one patient. Three small sequence variations were found in 30 mutated alleles (10.0%). Gene-dosage mutation accounted for 90% of all of the mutations found. The frequency of a heterozygous PARK2 gene-dosage mutation was higher in PD patients than in the controls.CONCLUSIONS:
Heterozygous gene-dosage mutation of PARK2 is a genetic risk factor for patients with early-onset or familial PD in Koreans.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parkinson Disease
/
Risk Factors
/
Point Mutation
/
Asian People
/
Alleles
/
Real-Time Polymerase Chain Reaction
Type of study:
Etiology study
/
Prognostic study
/
Risk factors
Limits:
Humans
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2014
Type:
Article
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