التفاصيل البيبلوغرافية
| العنوان: |
Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease |
| المؤلفون: |
Yun Joong, Kim, Junbeom, Jeon, Jaemoon, Shin, Nan Young, Kim, Jeong Hoon, Hong, Jae-Min, Oh, SangKyoon, Hong, Yeo Jin, Kim, Young-Eun, Kim, Suk Yun, Kang, Hyeo-Il, Ma, Unjoo, Lee, Jeehee, Yoon |
| المصدر: |
Movement disorders : official journal of the Movement Disorder Society. 32(8) |
| سنة النشر: |
2016 |
| مصطلحات موضوعية: |
Substantia Nigra, Gene Ontology, Phenotype, Databases as Topic, Gene Expression Regulation, Parkinsonian Disorders, Mutation, Humans, Genetic Predisposition to Disease, Parkinson Disease, Genetic Association Studies |
| الوصف: |
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.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.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 values0.05 in five studies). Among the 63 leading edge subset genes representing downregulated genes in PD, 79.4% were genes without a locus symbol prefix for familial PD. A meta-gene set enrichment analysis performed with a random-effect model showed an association between the gene set for hereditary parkinsonism and PD with a negative normalized enrichment score value (-1.40; 95% CI: -1.52∼-1.28; P6.2E-05).Disease-causing genes with a parkinsonism phenotype are downregulated in the SNpc in PD. Our study highlights the importance of genes associated with hereditary movement disorders with parkinsonism in understanding the pathogenesis of PD. © 2017 International Parkinson and Movement Disorder Society. |
| تدمد: |
1531-8257 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=pmid________::882997522d2fa6b716cfd14f08868893
https://pubmed.ncbi.nlm.nih.gov/28548297 |
| رقم الأكسشن: |
edsair.pmid..........882997522d2fa6b716cfd14f08868893 |
| قاعدة البيانات: |
OpenAIRE |
