|
| Status |
Public on Mar 03, 2014 |
| Title |
Gene expression alterations in the cerebellum and granule neurons of Cstb-/- mouse are associated with early synaptic changes and inflammation |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by array
|
| Summary |
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an inherited neurodegenerative disease with myoclonus, seizures and ataxia, caused by the mutations in cystatin B (CSTB) gene. In an approach towards understanding the molecular basis of pathogenic events in EPM1 we have utilized the cystatin B deficient mice (Cstb-/-), a model for the disease. We have characterized the gene expression changes from the cerebellum of Cstb-/- mouse at postnatal day 7 (P7) and P30 as well as in cultured cerebellar granule cells using a pathway-based approach. A marked upregulation of immune response genes was seen at P30, reflecting the ongoing neuropathology, however, the observed alterations in complement cascade genes could also imply defects in synaptic plasticity. Differentially expressed genes in pre-symptomatic Cstb-/- animals at P7 were connected to synaptic function and plasticity and in cultured cerebellar granule cells to cellular biogenesis, cytoskeleton and intracellular transport. Especially GABAergic pathways were affected.
|
| |
|
| Overall design |
The sample preparation and hybridzation of each cRNAs on GeneChip® Mouse Genome 430 2.0 arrays (Affymetrix, Santa Clara, CA, USA) were performed in Helsinki Biomedicum Biochip Center (Finland).
|
| |
|
| Contributor(s) |
Joensuu T, Tegelberg S, Reinmaa E, Segestråle M, Hakala P, Pehkonen H, Korpi E, Tyynelä J, Taira T, Hovatta I, Kopra O, Lehesjoki A |
| Citation(s) |
24586687 |
| |
| Submission date |
May 30, 2013 |
| Last update date |
Feb 11, 2019 |
| Contact name |
Tarja Hannele Joensuu |
| E-mail(s) |
tarja.joensuu@helsinki.fi
|
| Phone |
+358-9-19125081
|
| Fax |
+358-9-19125073
|
| Organization name |
Folkhälsan Research Center
|
| Department |
Folkhälsan Institute of Genetics
|
| Street address |
Haartmaninkatu 8 (PO Box 63)
|
| City |
Helsinki |
| ZIP/Postal code |
000290 |
| Country |
Finland |
| |
|
| Platforms (1) |
| GPL1261 |
[Mouse430_2] Affymetrix Mouse Genome 430 2.0 Array |
|
| Samples (21)
|
|
| Relations |
| BioProject |
PRJNA205945 |
Less...
More...