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Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients
Affiliations- 1 Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
- Department of Medical Genetics, Faculty of Medicine, University of Harran, 63000 Sanliurfa, Türkiye
- Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland, ul. Pawińskiego 5a, 02-106 Warsaw, Poland
- Department of Neurological and Psychiatric Nursing, Medical University, Gdansk, Poland
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Abstract
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 methodsThe 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.
ResultsMutations 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.
ConclusionsThe 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
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 methodsThe 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.
ResultsMutations 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.
ConclusionsThe 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.
Keywords
early onset Parkinson disease, PARK2, PINK1, PARK7
About this articleTitle
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
319-324
Page views
413
Article views/downloads
803
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
