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| Status |
Public on Nov 20, 2010 |
| Title |
Transcriptome analysis of the Nasu-Hakola disease brain |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Nasu-Hakola disease (NHD), also designated polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; OMIM 221770), is a rare autosomal recessive disorder, characterized by progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of DAP12 and TREM2, which constitute a receptor/adapter signaling complex expressed on osteoclasts, dendritic cells, macrophages, and microglia. No Japanese patients with TREM2 mutations have been reported previously. We reported three siblings affected with NHD in a Japanese family. Among them, two died of NHD during the fourth decade of life. The transcriptome was studied in the autopsized brain of one patient. We found a homozygous conversion of a single nucleotide T to C at the second position of intron 3 in the splice-donor consensus site (c.482+2T>C) of the TREM2 gene, resulting in exon 3 skipping. We identified 136 upregulated genes involved in inflammatory response and immune cell trafficking and 188 downregulated genes including a battery of GABA receptor subunits and synaptic proteins in the patient’s brain.
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| Overall design |
Total RNA was isolated from a small piece of autopsized frozen frontal lobe tissues of the patient. In parallel, the normal human frontal lobe RNA (636563; Clontech) was processed for serving as a control. Microarray analysis was performed on Human Gene 1.0 ST Array (Affymetrix). The CEL file data were normalized by the robust multiarray average (RMA) method.
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| Contributor(s) |
Satoh J, Numasawa Y, Yamaura C, Ishihara S, Shintani S, Yamazaki M, Tabunoki H |
| Citation(s) |
21834902 |
| Submission date |
Nov 19, 2010 |
| Last update date |
Jul 26, 2018 |
| Contact name |
Jun-ichi Satoh |
| E-mail(s) |
satoj@my-pharm.ac.jp
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| Organization name |
Meiji Pharmaceutical University
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| Department |
Bioinformatics
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| Lab |
Molecular Neuropathology
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| Street address |
2-522-1 Noshio, Kiyose
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| City |
Tokyo |
| ZIP/Postal code |
204-8588 |
| Country |
Japan |
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| Platforms (1) |
| GPL6244 |
[HuGene-1_0-st] Affymetrix Human Gene 1.0 ST Array [transcript (gene) version] |
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| Samples (2) |
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| Relations |
| BioProject |
PRJNA134631 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE25496_RAW.tar |
8.4 Mb |
(http)(custom) |
TAR (of CEL, CHP) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
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