GLUT1 Deficiency Project

Researcher

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 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

Translational Neurogenetics Laboratory


Key Contact

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

Department / Centre

Medicine and Radiology

Unit / Centre

Translational Neurogenetics Laboratory

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