Transgenic expression of the human Glucose Transporter1 (GLUT1) gene locus reduces disease burden in Glut1 deficiency syndrome model mice.

ABSTRACT: Proper brain function relies on an adequate supply of energy - mainly glucose - to power neuronal activity. Delivery of this nutrient to the neuropil is mediated by the Glucose Transporter1 (GLUT1) protein. Perturbing glucose supply to the brain is profoundly damaging and exemplified by the neurodevelopmental disorder, GLUT1 deficiency syndrome (GLUT1DS). Resulting from haploinsufficiency of the SLC2A1 (GLUT1) gene, GLUT1DS is characterized by intractable infantile-onset seizures and a disabling movement disorder. Ketogenic diets, which supply the brain with an alternate energy source, ketone bodies, are currently the preferred therapeutic option for Glut1DS patients but do not address the underlying cause - low brain glucose - of the disease. One intuitively appealing therapeutic strategy

SUBMITTER: Tang M 

PROVIDER: S-EPMC12496523 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature