 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Jan 01, 2016 |
| Title |
Expression data from POLG1 patients and control subjects muscle |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
|
| Summary |
Pathogenic mutations in the catalytic DNA polymerase gamma (POLG1) gene result in the accumulation of mtDNA mutations, deletions and/or decrease of mtDNA copy number. These features interfere with proper functioning of the electron transport chain, mostly affecting metabolically active tissues such as the brain, the heart and the liver. So far, mechanisms underlying POLG pathogenesis are not fully understood.
To identify general pathways influenced by mutant polymerase gamma, skeletal muscle gene expression profiles of six POLG1 patients and twelve controls were compared.
|
| |
|
| Overall design |
Patient and control subject from three age categories (<10; 11-49; >50) were selected. RNA was extracted from skeletal muscle biopsies and hybridized on Affymetrix microarrays.
|
| |
|
| Contributor(s) |
Voets AM, van den Bosch BJ, Lindsey PJ, Verdijk RM, Schoonderwoerd KC, Vanherle SJ, Esseling JJ, Koopman W, Willems P, de Die-Smolders CE, Poll-The BT, Faber CG, de Coo IF, Smeets HJ |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| Submission date |
Oct 23, 2009 |
| Last update date |
Mar 25, 2019 |
| Contact name |
An M Voets |
| E-mail(s) |
an.voets@uhasselt.be
|
| Organization name |
Hasselt University
|
| Department |
BIOMED
|
| Street address |
Martelarenlaan 42
|
| City |
Hasselt |
| ZIP/Postal code |
3500 |
| Country |
Belgium |
| |
|
| Platforms (1) |
| GPL570 |
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array |
|
| Samples (18)
|
|
| Relations |
| BioProject |
PRJNA121515 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE18715_RAW.tar |
150.2 Mb |
(http)(custom) |
TAR (of CEL) |
| Processed data included within Sample table |
|
|
|
|
 |
Less...
More...