J Korean Med Assoc.  2011 Jan;54(1):70-78.

Genetics in Parkinson's disease

• Chung SJ

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.

Keyword

Parkinson disease; Genes; Genome; Mutation; Genetic variation

MeSH Terms

Epigenomics
Genetic Research
Genetic Variation
Genome
Genome-Wide Association Study
Neurodegenerative Diseases
Parkinson Disease
Phenotype

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