GSE124283 Changes in the level of expression of genes involved in the pathogenic mechanisms in rare, inherited metabolic diseases.

Contributors : Agnieszka Ługowska ; Roksana M Iwanicka-Nowicka ; Rafał T Płoski ; Marta K Koblowska ; Anna Fogtman ; Paweł WłodarskiSeries Type : Expression profiling by arrayOrganism : Homo sapiensInherited 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, enzy mes 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 invo lved 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 espec ially 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 cel ls originating...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research