Quantitative proteomics analysis in cultured skin fibroblasts from patients with rare genetic disorders

Over the last decades, the responsible gene defects have been identified in many inherited diseases. This has certainly led to a better diagnosis of these diseases. Also, identification of the underlying gene defect has helped enormously genetic counselling in affected families resulting in better prevention of these disorders. Initially, it was thought that it would also lead to the development of effective new treatments. Gene therapy consisting of introducing a full-length gene into the affected tissues of the patient was harder than scientists initially thought. Only a few disorders can nowadays be treated by gene therapy. New techniques are being developed for intervention on the gene itself such as the exonskipping technique used, for example, as treatment of Duchenne disease. An alternative way to treat patients with inborn defects is the administration of a small chemical substance that blocks the molecular mechanism responsible for cell damage and cell death and by this way prevents progression of the disease. For this purpose, a good knowledge of the molecular pathophysiological mechanism is necessary. In the PhD work presented here, three genetic disorders are studied: Giant Axonal Neuropathy (GAN), Ullrich Congenital Muscular Dystrophy (UCMD) and Pseudoxanthoma Elasticum (PXE). The underlying gene defect in these disorders is known but the molecular mechanism leading to cell damage is not. In the study presented here, much work has been done in an effort to gain better insight into the underlying pathogenetic mechanism in these disorders. In all three disorders, skin fibroblasts are involved in the disease process. Cultured skin fibroblasts are used as a cell model for the disease. A proteomics quantification method is applied to study the pathogenic alterations in these cells.

Grantor dc:publisher

Ghent University. Faculty of Medicine and Health Sciences

Year dc:date

2013

Author dc:creator

• Mussche, Silke

Contributors dc:contributor

• Van Coster, Rudy
• Devreese, Bart

• Biology and Life Sciences

Statement dc:rights

• info:eu-repo/semantics/openAccess

Language dc:language

eng

Identifier

https://biblio.ugent.be/publication/4094081
https://biblio.ugent.be/publication/4094081/file/4336512

OAI identifier oai:identifier

oai:archive.ugent.be:4094081