Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease

ABSTRACT Background and Objectives Many hereditary movement disorders with complex phenotypes without a locus symbol prefix for familial PD present as parkinsonism; however, the dysregulation of genes associated with these phenotypes in the SNpc of PD patients has not been systematically studied. Me...

Full description

Saved in:
Bibliographic Details
Published in:Movement disorders 2017-08, Vol.32 (8), p.1211-1220
Main Authors: Kim, Yun Joong, Jeon, Junbeom, Shin, Jaemoon, Kim, Nan Young, Hong, Jeong Hoon, Oh, Jae‐Min, Hong, SangKyoon, Kim, Yeo Jin, Kim, Young‐Eun, Kang, Suk Yun, Ma, Hyeo‐Il, Lee, Unjoo, Yoon, Jeehee
Format: Article
Language:English
Subjects:
Basal ganglia
Brain diseases
Central nervous system diseases
Databases as Topic
Gene expression
Gene Expression Regulation - genetics
Gene Ontology
Gene set enrichment analysis
Genetic Association Studies - methods
Genetic Association Studies - statistics & numerical data
Genetic Predisposition to Disease
Genomes
hereditary movement disorders
Heredity
Humans
Mesencephalon
microarray
Movement disorders
Mutation - genetics
Neurodegenerative diseases
Parkinson Disease - genetics
Parkinson Disease - pathology
Parkinson's disease
Parkinsonian Disorders - genetics
Parkinsonian Disorders - pathology
Phenotype
PPP2R2B
Substantia Nigra - pathology
Substantia Nigra - physiopathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:ABSTRACT Background and Objectives Many hereditary movement disorders with complex phenotypes without a locus symbol prefix for familial PD present as parkinsonism; however, the dysregulation of genes associated with these phenotypes in the SNpc of PD patients has not been systematically studied. Methods Gene set enrichment analyses were performed using 10 previously published genome‐wide expression datasets obtained by laser‐captured microdissection of pigmented neurons in the SNpc. A custom‐curated gene set for hereditary parkinsonism consisting of causative genes (n = 78) related to disorders with a parkinsonism phenotype, but not necessarily idiopathic or monogenic PD, was constructed from the Online Mendelian Inheritance in Man database. Results In 9 of the 10 gene expression data sets, gene set enrichment analysis showed that the disease‐causing genes for hereditary parkinsonism were downregulated in the SNpc in PD patients compared to controls (nominal P values
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.27019