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Pizza club - January 2017 - Alberto

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Alberto gave us 2 examples of large metabolic networks: ReconMap and Leigh map.

Published in: Science
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Pizza club - January 2017 - Alberto

  1. 1. Pizza Club Alberto Noronha 25-01-2017
  2. 2. Biological Networks • Metabolic • Regulatory • Signaling • Protein-Protein • Gene-Phenotype
  3. 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
  4. 4. ReconMap
  5. 5. Google Maps for metabolism
  6. 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. 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
  8. 8. Building a gene-phenotype network
  9. 9. Overview of the map
  10. 10. Functionality
  11. 11. 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

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