Abstract
The etiology of Parkinson’s disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluated clinical features in these patients. We showed that in the Polish population 4% of PD patients had PRKN mutations (single or with additional polymorphism) while single heterozygous polymorphisms (S167N, E310D, D394N) of PRKN were present in 21% of sporadic PD. Moreover, 5% PD patients had more than one PRKN change (polymorphisms and mutations). Detected PRKN variants moderately correlated with PD course and response to L-dopa. It also showed that other PARK genes (SNCA, HTRA2, SPR) mutations probably may additionally influence PD risk and clinical features. PRKN variants are relatively common in our Polish series of patients with PD. Analysis of the PRKN gene may be useful in determining clinical phenotype, and helping with diagnostic and prognostic procedures in the future.
Keywords: PARK, PRKN, Genetic variants, Clinical features, Parkinson’s disease.
Graphical Abstract
Current Genomics
Title:Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson’s Disease
Volume: 16 Issue: 4
Author(s): Anna Oczkowska, Jolanta Florczak-Wyspianska, Agnieszka Permoda-Osip, Michal Owecki, Margarita Lianeri, Wojciech Kozubski and Jolanta Dorszewska
Affiliation:
Keywords: PARK, PRKN, Genetic variants, Clinical features, Parkinson’s disease.
Abstract: The etiology of Parkinson’s disease (PD) is still unclear, but mutations in PRKN have provided some biological insights. The role of PRKN mutations and other genetic variation in determining the clinical features of PD remains unresolved. The aim of the study was to analyze PRKN mutations in PD and controls in the Polish population and to try to correlate between the presence of genetic variants and clinical features. We screened for PRKN mutations in 90 PD patients and 113 controls and evaluated clinical features in these patients. We showed that in the Polish population 4% of PD patients had PRKN mutations (single or with additional polymorphism) while single heterozygous polymorphisms (S167N, E310D, D394N) of PRKN were present in 21% of sporadic PD. Moreover, 5% PD patients had more than one PRKN change (polymorphisms and mutations). Detected PRKN variants moderately correlated with PD course and response to L-dopa. It also showed that other PARK genes (SNCA, HTRA2, SPR) mutations probably may additionally influence PD risk and clinical features. PRKN variants are relatively common in our Polish series of patients with PD. Analysis of the PRKN gene may be useful in determining clinical phenotype, and helping with diagnostic and prognostic procedures in the future.
Export Options
About this article
Cite this article as:
Oczkowska Anna, Florczak-Wyspianska Jolanta, Permoda-Osip Agnieszka, Owecki Michal, Lianeri Margarita, Kozubski Wojciech and Dorszewska Jolanta, Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson’s Disease, Current Genomics 2015; 16 (4) . https://dx.doi.org/10.2174/1389202916666150326002549
DOI https://dx.doi.org/10.2174/1389202916666150326002549 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Strength and Weaknesses of Cerebrospinal Fluid Biomarkers in Alzheimer’s Disease and Possible Detection of Overlaps with Frailty Process
CNS & Neurological Disorders - Drug Targets Third Generation Antipsychotic Drugs: Partial Agonism or Receptor Functional Selectivity?
Current Pharmaceutical Design Parallel Roles for Dopamine in Pathological Gambling and Psychostimulant Addiction
Current Drug Abuse Reviews Pharmacological Applications of Antioxidants: Lights and Shadows
Current Drug Targets CYP-Mediated Clozapine Interactions: How Predictable Are They?
Current Drug Metabolism Genetic Anomalies of the Respiratory Tract
Current Respiratory Medicine Reviews Spirulina in Health Care Management
Current Pharmaceutical Biotechnology Endocannabinoid Metabolic Pathways and Enzymes
Current Drug Targets - CNS & Neurological Disorders Effect of Polyherbal Drug Majun Falasfa on the Transgenic Drosophila Model of Parkinson’s Disease
Current Traditional Medicine Tau, Amyloid Beta and Deep Brain Stimulation: Aiming to Restore Cognitive Deficit in Alzheimer's Disease
Current Alzheimer Research Older and Newer Strategies for the Pharmacological Management of Agitation in Patients with Bipolar Disorder or Schizophrenia
CNS & Neurological Disorders - Drug Targets Role of the Central Cholinergic System in the Therapeutics of Schizophrenia
Current Neuropharmacology Systematic Review of the Influence of Antipsychotics on the Blood Oxygenation Level-Dependent Signal of Functional Magnetic Resonance Imaging
Current Medicinal Chemistry Susceptibility Genes for the Side Effect of Antipsychotics on Body Weight and Obesity
Current Drug Targets Brain Aging and Disorders of the Central Nervous System: Kynurenines and Drug Metabolism
Current Drug Metabolism Preface [Hot topic: Potential Therapeutic Agents for Parkinsons Disease (Executive Editor: Masato Asanuma)]
Current Pharmaceutical Design Recent Advances in Progressive Supranuclear Palsy: A Review
Current Alzheimer Research Nitric Oxide Production during Cerebral Ischemia and Reperfusion in eNOS- and nNOS-Knockout Mice
Current Neurovascular Research mTOR: A Novel Therapeutic Target for Diseases of Multiple Systems
Current Drug Targets Peak Treadmill Exercise Echocardiography
Reviews on Recent Clinical Trials