Gene therapy for a mouse model of glucose transporter-1 deficiency syndrome.

ABSTRACT:

Objective

We generated an adeno-associated virus (AAV) vector in which the human SLC2A1 gene was expressed under the synapsin I promoter (AAV-hSLC2A1) and examined if AAV-hSLC2A1 administration can lead to functional improvement in GLUT1-deficient mice.

Methods

AAV-hSLC2A1 was injected into heterozygous knock-out murine Glut1 (GLUT1^+/-) mice intraperitoneally (systemic; 1.85 × 10¹¹ vg/mouse) or intra-cerebroventricularly (local; 1.85 × 10¹⁰ vg/mouse). We analyzed GLUT1 mRNA and protein expression, motor function using rota-rod and footprint tests, and blood and cerebrospinal fluid (CSF) glucose levels.

Results

Vector-derived RNA was detected in the cerebrum for both injection routes. In the int

SUBMITTER: Nakamura S 

PROVIDER: S-EPMC5238605 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature