GLUT1 Deficiency Project

Project Details

Glucose transporter-1 (GLUT1), encoded by the SLC2A1 gene, is responsible for glucose transport across the blood-brain barrier. Mutations in SLC2A1 result in GLUT1 deficiency syndrome which is associated with a spectrum of seizure disorders from mild (absence epilepsy) to severe (GLUT1 encephalopathy), and movement disorder. GLUT1 deficiency can be treatable using the ketogenic diet. Mutation analysis of SLC2A1 is a long-standing focus of our laboratory – we have screened this gene in over 1,500 patients with different types of epilepsy and discovered many novel mutations.

Glucose and lactate transport pathways. Graphic showing a simplified version of the major glucose and lactate transport pathways in the brain. The key transfer steps facilitated by the GLUT and MCT transporters are illustrated. Gluc, glucose; Pyr, pyruvate; La, lactate; Glu, glutamate; ECF, extracellular fluid. Adapted from Gladden LB 2004 J Physiol.

Researchers

  • Dr Michael Hildebrand BBiomed Sci, BSc (Hons), PhD - Laboratory Head
  • John Damiano BSc (Hons) - Senior Research Assistant
  • Amelia McGlade BSc (Hons) - Senior Research Assistant
  • Kristin Rigbye, BSc (Hons) 
  • Rebekah Stubbs, BSc, Grad Dip - Technical Assistant

Collaborators

  • A/Prof Angela Morgan, Murdoch Children's Research Institute
  • Prof Melanie Bahlo, Walter and Eliza Hall Institute
  • Prof Patrick Kwan, Royal Melbourne Hospital
  • A/Prof Heather Mefford, University of Washington

Funding

  1. National Health and Medical Research Council (NHMRC) Project Grant APP1050161 2013-2015, Glucose homeostasis in epilepsy, The Florey Institute of Neuroscience and Mental Health and Epilepsy Research Centre, University of Melbourne, Australia ($301,931 AUD) CIA: A/Prof. Steven Petrou, CIB: Dr. Chris A. Reid, CIC: Dr. Michael S. Hildebrand.

Research Opportunities

This research project is available to PhD, Masters, Honours students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Outcomes

  1. Liu YC, Lee JW, Bellows ST, Damiano JA, Mullen SA, Berkovic SF, Bahlo M, Scheffer IE, Hildebrand MS; Clinical Group.. Evaluation of non-coding variation in GLUT1 deficiency. Dev Med Child Neurol. 2016 Jun 6. [Epub ahead of print]
  2. Hildebrand MS, Damiano JA, Mullen SA, Bellows ST, Oliver KL, Dahl HH, Scheffer IE, Berkovic SF. Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. Epilepsia. 2014 55(2):e18-21.

Research Group




Key Contact

For further information about this research, please contact the research group leader.

Department / Centre

Medicine and Radiology