Zoek in de site...

IMM colloquium September 25: "Diving into the metabolome – to the benefit of our patients" (Lecture)

Tuesday 25 September 2018Add to my calendar
from 15:45
prof. Ron Wevers (Translational Metabolic Laboratory Radboudumc)
Preceding lecture
Lisanne Kemkes (Molecular Structure and Dynamics), title: Electron Transfer Dissociation: Understanding a novel method for protein sequencing by infrared ion spectroscopy"

prof. Ron Wevers (RUMC)Metabolomics is the comprehensive study of the metabolome, the repertoire of bio-chemicals and pathways present in cells, tissues, and body fluids. The study of meta-bolism at the comprehensive or "-omics" level is rapidly growing. It holds a promise to have a profound impact on medical practice, especially so when genomics, metabo-lomics, lipidomics and glycomics join forces. The metabolome is largely determined by what has been encoded by the genome, and it is modified by diet, environmental factors and the gut microbiome. The metabolic profile provides a quantifiable readout of the metabolic pathways required for a healthy physiological state. At the center of metabo-lomics, is the concept that a person's metabolic state provides a close representation of that individual's overall health status.

Inborn errors of metabolism are due to defects in genes encoding for enzymes or transporters. Such genetic defects will derange the normal physiological state and often lead to disease. A substantial part of our genome is devoted to maintain the required metabolic pathways in our body. Pathogenic mutations can occur in any of these genes. Individually all metabolic diseases are rare but collectively they form a significant disease burden in any population. Metabolic diseases can present at any age and in many different clinical forms making life difficult for health care professionals to find the correct diagnosis. Here metabolomics can be of help. Modern analytical techniques like NMR and LC-MS provide a holistic overview of the metabolome and can pinpoint a molecular derangement of human metabolism at an unprecedented precision and accuracy. Exploring the human body fluid metabolome surprisingly shows a significant percentage of unknown “features” deriving from molecular species that cannot be annotated with the help of public databases.

The lecture will show approaches to unravel the molecular identity of the metabolites behind such “unknowns”, also called Features of Unknown Significance (FUS). This is a major challenge in genetic and metabolic medicine. Answers can be provided by using the structural information from NMR spectra, MSn spectra and infrared spectra. This is where our FNWI infrastructure comes in (Goudsmit pavilion, Felix laboratory). Solving the identity of such disease biomarkers that show up in untargeted metabolomics approaches will provide a deeper understanding of the disease mechanism in individual patients and contribute to tailor-made treatment options. A true case of personalised medicine. We have coined the novel omics-approach to genetic and metabolic diseases as Next Generation Metabolite Screening (NGMS).

dr. Britta Redlich