Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease
| Autor: | Yun Joong Kim, Jae-Min Oh, Young Eun Kim, Unjoo Lee, Jeehee Yoon, Sang-Kyoon Hong, Jeong Hoon Hong, Yeo Jin Kim, Junbeom Jeon, Hyeo-Il Ma, Jaemoon Shin, Nan Young Kim, Suk Yun Kang |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics Movement disorders Parkinson's disease Parkinsonism Locus (genetics) Biology Bioinformatics medicine.disease PPP2R2B Phenotype 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Neurology medicine OMIM : Online Mendelian Inheritance in Man Neurology (clinical) medicine.symptom Gene 030217 neurology & neurosurgery |
| Zdroj: | Movement Disorders. 32:1211-1220 |
| ISSN: | 0885-3185 |
| DOI: | 10.1002/mds.27019 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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