open access

Vol 47, No 4 (2013)
ARTYKUŁ ORYGINALNY
Submitted: 2012-06-06
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Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients

Dariusz Koziorowski, Dorota Hoffman-Zacharska, Jarosław Sławek, Zygmunt Jamrozik, Piotr Janik, Anna Potulska-Chromik, Anna Roszmann, Renata Tataj, Jerzy Bal, Andrzej Friedman
DOI: 10.5114/ninp.2013.36756
·
Neurol Neurochir Pol 2013;47(4):319-324.

open access

Vol 47, No 4 (2013)
ARTYKUŁ ORYGINALNY
Submitted: 2012-06-06

Abstract

Background and purpose

Parkinson disease (PD) is a complex disease, comprising genetic and environmental factors. Despite the vast majority of sporadic cases, three genes, i.e. PARK2, PINK1 and PARK7 (DJ-1), have been identified as responsible for the autosomal recessive form of early-onset Parkinson disease (EO-PD). Identified changes of these genes are homozygous or compound heterozygous mutations. The frequency of PARK2, PINK1 and PARK7 mutations is still under debate, as is the significance and pathogenicity of the single heterozygous mutations/variants, which are also detected among PD patients. The aim of the study was to analyze the incidence of autosomal recessive genes PARK2, PINK1, PARK7 mutations in Polish EO-PD patients.

Material and methods

The analysis of the PARK2, PINK1 and PARK7 genes was performed in a group of 150 Polish EO-PD patients (age of onset < 45 years). Mutation analysis was based on sequencing and gene dosage abnormality identification.

Results

Mutations were identified only in the PARK2 and PINK1 genes with the frequency of 4.7% and 2.7% of subjects, respectively. In PARK2, point mutations and exons' rearrangements, and in PINK1 only missense mutations were detected. In both genes mutations were found as compound heterozygous/homozygous and single heterozygous. EO-PD patients’ genotype-phenotype correlation revealed similarities of clinical features in mutation carriers and non-carriers.

Conclusions

The frequency of the PARK2, PINK1, PARK7 mutations among Polish EO-PD patients seems to be low. The role of single heterozygous mutations remains a matter of debate and needs further investigations.

Abstract

Background and purpose

Parkinson disease (PD) is a complex disease, comprising genetic and environmental factors. Despite the vast majority of sporadic cases, three genes, i.e. PARK2, PINK1 and PARK7 (DJ-1), have been identified as responsible for the autosomal recessive form of early-onset Parkinson disease (EO-PD). Identified changes of these genes are homozygous or compound heterozygous mutations. The frequency of PARK2, PINK1 and PARK7 mutations is still under debate, as is the significance and pathogenicity of the single heterozygous mutations/variants, which are also detected among PD patients. The aim of the study was to analyze the incidence of autosomal recessive genes PARK2, PINK1, PARK7 mutations in Polish EO-PD patients.

Material and methods

The analysis of the PARK2, PINK1 and PARK7 genes was performed in a group of 150 Polish EO-PD patients (age of onset < 45 years). Mutation analysis was based on sequencing and gene dosage abnormality identification.

Results

Mutations were identified only in the PARK2 and PINK1 genes with the frequency of 4.7% and 2.7% of subjects, respectively. In PARK2, point mutations and exons' rearrangements, and in PINK1 only missense mutations were detected. In both genes mutations were found as compound heterozygous/homozygous and single heterozygous. EO-PD patients’ genotype-phenotype correlation revealed similarities of clinical features in mutation carriers and non-carriers.

Conclusions

The frequency of the PARK2, PINK1, PARK7 mutations among Polish EO-PD patients seems to be low. The role of single heterozygous mutations remains a matter of debate and needs further investigations.

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Keywords

early onset Parkinson disease, PARK2, PINK1, PARK7

About this article
Title

Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 47, No 4 (2013)

Pages

319-324

DOI

10.5114/ninp.2013.36756

Bibliographic record

Neurol Neurochir Pol 2013;47(4):319-324.

Keywords

early onset Parkinson disease
PARK2
PINK1
PARK7

Authors

Dariusz Koziorowski
Dorota Hoffman-Zacharska
Jarosław Sławek
Zygmunt Jamrozik
Piotr Janik
Anna Potulska-Chromik
Anna Roszmann
Renata Tataj
Jerzy Bal
Andrzej Friedman

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