Genetics in Parkinson's disease

Sun Ju Chung

doi:10.5124/jkma.2011.54.1.70

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Chung: Genetics in Parkinson's disease

Continuing Education Column

Journal of the Korean Medical Association

Journal of the Korean Medical Association 2011; 54(1): 70-78.

Published online: 15 January 2011

DOI: https://doi.org/10.5124/jkma.2011.54.1.70

Genetics in Parkinson's disease

Sun Ju Chung, MD

Parkinson/Alzheimer Center, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Corresponding author: Sun Ju Chung, sjchung@amc.seoul.kr

Received 25 September 2010 Accepted 13 October 2010

(open-access):

This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder, characterized by a large number of motor and non-motor features that can cause functional disability. Several gene mutations have been identified as causing familial PD. Most sporadic PD is caused by a complex etiology stemming from various genetic and environmental factors. Over the past 10 years, genetic research on PD has changed our conventional wisdom that PD was not a genetic disorder. Genetic findings have contributed to our understanding of the molecular etiology and pathogenesis of PD. Many mutations in a growing number of genes have been identified as causing monogenic forms of PD. Genome-wide association studies have become increasingly widely used to determine genomic regions that may contain loci influencing the risk of PD, providing new biological insights. Further studies will be performed to elucidate how complex interactions among genetics, epigenetics and the environment combine to shape phenotypes of PD. This advancement of genetics research on PD has begun to impact on clinical practice, and this impact seems to be increasing.

Keywords: Parkinson disease, Genes, Genome, Mutation, Genetic variation

Figures and Tables

Table 1

Genetic loci and genes associated with monogenic forms of Parkinson's disease (PARK loci)

Acknowledgement

This study was supported by a grant (2010-416) from the Asan Institute for Life Sciences, Seoul, Korea.

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