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Liver-directed gene therapy for murine glycogen storage disease type Ib
- Source :
- Human molecular genetics. 26(22)
- Publication Year :
- 2017
-
Abstract
- Glycogen storage disease type-Ib (GSD-Ib), deficient in the glucose-6-phosphate transporter (G6PT), is characterized by impaired glucose homeostasis, myeloid dysfunction, and long-term risk of hepatocellular adenoma (HCA). We examined the efficacy of G6PT gene therapy in G6pt-/- mice using recombinant adeno-associated virus (rAAV) vectors, directed by either the G6PC or the G6PT promoter/enhancer. Both vectors corrected hepatic G6PT deficiency in murine GSD-Ib but the G6PC promoter/enhancer was more efficacious. Over a 78-week study, using dose titration of the rAAV vectors, we showed that G6pt-/- mice expressing 3-62% of normal hepatic G6PT activity exhibited a normalized liver phenotype. Two of the 12 mice expressing
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
G6PC
Monosaccharide Transport Proteins
medicine.medical_treatment
Genetic Vectors
Glucose-6-Phosphate
Mice, Transgenic
Biology
Glycogen Storage Disease Type I
Antiporters
03 medical and health sciences
Mice
Insulin resistance
Internal medicine
Glycogen Storage Disease Type Ib
Genetics
medicine
Glycogen storage disease
Glucose homeostasis
Animals
Homeostasis
Humans
Promoter Regions, Genetic
Molecular Biology
Genetics (clinical)
Glycogen storage disease type I
Insulin
General Medicine
Genetic Therapy
Articles
Hepatocellular adenoma
medicine.disease
Disease Models, Animal
030104 developmental biology
Endocrinology
Liver
Glucose-6-Phosphatase
Insulin Resistance
Subjects
Details
- ISSN :
- 14602083
- Volume :
- 26
- Issue :
- 22
- Database :
- OpenAIRE
- Journal :
- Human molecular genetics
- Accession number :
- edsair.doi.dedup.....4c48fa19462667a17397125e4201522a