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Updated: Jan 20, 2026
A Simple Flow Cytometric Method to Measure Glucose Uptake and Glucose Transporter Expression for Monocyte Subpopulations in Whole Blood
Published on: August 12, 2016
Therapeutic strategies for glucose transporter 1 deficiency syndrome
Maoxue Tang1,2, Sarah H Park2,3, Darryl C De Vivo2,3
1Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, 10032.
Insights
Glut1 deficiency syndrome (Glut1 DS) models reveal brain energy failure mechanisms. These models are crucial for developing treatments for Glut1 DS and understanding related neurological conditions.
Area of Science:
- Neuroscience
- Genetics
- Metabolic disorders
Background:
- The brain relies heavily on glucose, supplied by the glucose transporter 1 (Glut1) protein.
- Mutations in the SLC2A1 gene cause Glut1 deficiency syndrome (Glut1 DS), leading to impaired brain glucose uptake and neurodevelopmental issues.
Purpose of the Study:
- To review how Glut1 DS models illuminate brain energy failure.
- To discuss treatment development for Glut1 DS using these models.
- To explore broader implications for conditions involving Glut1.
Main Methods:
- Review of existing literature on Glut1 deficiency syndrome models.
- Analysis of studies investigating brain energy metabolism in Glut1 DS.
- Examination of therapeutic strategies for Glut1 DS.
Main Results:
- Glut1 DS models provide insights into the cellular and molecular effects of brain energy deficits.
- These models are instrumental in advancing novel therapeutic approaches for Glut1 DS.
- The study of Glut1 DS offers a paradigm for understanding other Glut1-related disorders.
Conclusions:
- Glut1 DS serves as a key model for studying brain energy failure.
- Research on Glut1 DS models is driving therapeutic innovation.
- Insights from Glut1 DS have broader relevance to neurological conditions involving glucose metabolism.
Abstract:
Proper development and function of the mammalian brain is critically dependent on a steady supply of its chief energy source, glucose. Such supply is mediated by the glucose transporter 1 (Glut1) protein. Paucity of the protein stemming from mutations in the associated SLC2A1 gene deprives the brain of glucose and triggers the infantile-onset neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). Considering the monogenic nature of Glut1 DS, the disease is relatively straightforward to model and thus study. Accordingly, Glut1 DS serves as a convenient paradigm to investigate the more general cellular and molecular consequences of brain energy failure. Here, we review how Glut1 DS models have informed the biology of a prototypical brain energy failure syndrome, how these models are facilitating the development of promising new treatments for the human disease, and how important insights might emerge from the study of Glut1 DS to illuminate the myriad conditions involving the Glut1 protein.
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