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Studying congenital disorders of glycosylation and their potential treatments using tracer metabolomics

Congenital disorders of glycosylation (CDG) are a group of individually rare diseases that often severely affect multiple organs. On a biochemical level there is a malfunction of the glycosylation machinery that normally puts sugar antennas on most proteins in order that they can perform their function properly. Usually, there is no treatment for these CDG. A notable exception are a group of CDG that are characterized by a deficit of galactose in these sugar antennas. They are treated with galactose supplements. However, the exact mechanism of action remains largely unknown as some parts of the glycosylation process are incompletely understood by the methods used thus far. We propose a radical change to this approach, by analysing systemic, and dynamic, metabolic changes to patient’s cells and liver-like cells by using tracer based metabolomics. Providing us with an additional layer beyond classical based metabolomics, this will enable us to reconstruct the dynamic activity of multiple metabolic pathways in these cells by focussing on just a few complex molecules. Insights gleaned from using this approach and seeing how galactose rewires the metabolism, will provide novel insights into these disease mechanisms and treatments. Finally, we will screen other types of CDG to see whether this treatment can also be successful.

Date:24 Sep 2020 →  Today
Keywords:tracer metabolomics, congenital disorders of glycosylation, hexoses, nutrients
Project type:PhD project