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| Status |
Public on Apr 23, 2019 |
| Title |
Changes in the level of expression of genes involved in the pathogenic mechanisms in rare, inherited metabolic diseases. |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
Inherited metabolic diseases belong to the group of rare diseases (so called ‘orphan diseases’) whose incidence is less than 1: 5 000 live births. Among these diseases the lysosomal storage diseases (LSD) are also distinguished, which are caused by disorders in the lysosomal system resulting from the mutations in the genes coding for lysosomal hydrolases, cofactors, enzymes involved in the posttranslational processing, and proteins present in the lysosomal membrane. Although about 70 LSD are recognized so far, their pathomechanism is almost unknown. Hitherto existing results of scientific investigations indicate that different cellular pathways and events are involved in the pathogenic processes: autophagy, apoptosis, toxic action of lyso- derivatives of lipid compounds, disordered Ca2+ ions intracellular homeostasis, secondary storage of macromolecular compounds, signal transduction, inflammatory processes, deficient by-products and many more. We are especially interested in the explanation of pathomechanisms of Gaucher disease and Niemann-Pick type C disease (for the latter disease there is no therapy officially accepted). In this project we aim to experimentally explain: - which cellular pathways and mechanisms are activated and inactivated in cells originating from patients with different LSD and healthy individuals - are there differences in genes expression in different diseases - are gene expression changes related to known and observed biochemical and clinical changes.
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| Overall design |
Material for the study consists of RNA samples isolated from cultured skin fibroblasts obtained from 20 individuals, in whom no LSD was diagnosed (healthy persons), 20 patients in whom Niemann-Pick type C disease has been diagnosed, and 5 patients with Gaucher disease. Changes in genes expression were investigated by means of microarray analysis with the use of the Illumina technology, which enables the tracking of changes in the whole human genome. Results of microarray analysis were verified by quantitative RT-PCR technique.
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| Contributor(s) |
Ługowska A, Iwanicka-Nowicka RM, Płoski RT, Koblowska MK, Fogtman A, Włodarski P |
| Citation(s) |
30988500 |
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| Submission date |
Dec 21, 2018 |
| Last update date |
Apr 23, 2019 |
| Contact name |
Agnieszka Lugowska |
| E-mail(s) |
alugipin@yahoo.com
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| Organization name |
Institute of Psychiatry and Neurology
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| Department |
Department of Genetics
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| Street address |
Al. Sobieskiego 9
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| City |
Warsaw |
| ZIP/Postal code |
02-957 |
| Country |
Poland |
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| Platforms (1) |
| GPL10904 |
Illumina HumanHT-12 V4.0 expression beadchip (gene symbol) |
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| Samples (144)
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| Relations |
| BioProject |
PRJNA511463 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE124283_RAW.tar |
229.7 Mb |
(http)(custom) |
TAR (of IDAT) |
| Processed data included within Sample table |
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