3. Metabolic networks
• Genome-scale metabolic reconstructions
• Deriving mathematical models from these networks allow simulations
• Recon 2 – Global reconstruction of the human metabolic network
• 7439 reactions
• 2626 metabolites
• 2140 genes
• Interface exists to interactively visualize its content integrated with
omics data and simulation results
6. Features
• Users may post suggestions for refinement
• Connection with PD Map
• Template for generation of cell-, tissue- and organ-specific maps
• Extension to The COBRA Toolbox
• http://vmh.uni.lu/#reconmap
7. Leigh Syndrome
• Mitochondrial disorders are among the most severe metabolic
disorders
• Multisystemic phenotypes
• Diagnostic resource for mitochondrial disease
• Prototype for Leigh Syndrome
• Progressive neurodegenerative disorder
• Basal ganglia and/or brainstem dysfunction
• Usally death occurs 2 years after initial presentation
13. Conclusions
• Combining the use of Leigh Map with WES data and metabolic testing
can help provide patients with accurate diagnoses or to direct further
biochemical investigation
• Addition of novel disease genes or phenotypes with relative ease
• Expand to more mitochondrial diseases
• Limitations in combined/advanced searches
http://vmh.life