G6PC mRNA therapy positively regulates fasting blood glucose and decreases liver abnormalities in a mouse model of glycogen storage disease 1a
Open accessAbstract
Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications. We examined the efficacy of mRNA-encoding human G6Pase in a liver-specific G6Pase −/− mouse model ( L-G6PC −/− ) that exhibits the same hepatic biomarkers associated with GSD1a patients, such as fasting hypoglycemia, and elevated levels of hepatic glucose-6-phosphate (G6P), glycogen, and triglycerides. We show that a single systemic injection of wild-type or native human G6PC mRNA results in significant improvements in fasting blood glucose levels for up to 7 days post-dose. These changes were associated with significant reductions in liver mass, hepatic G6P, glycogen, and triglycerides. In addition, an engineered protein variant of human G6Pase, designed for increased duration of expression, showed superior efficacy to the wild-type sequence by maintaining improved fasting blood glucose levels and reductions in liver mass for up to 12 days post-dose. Our results demonstrate for the first time the effectiveness of mRNA therapy as a potential treatment in reversing the hepatic abnormalities associated with GSD1a.
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Three other GARDs (Crigler-Najjar syndrome type 1, alpha-1 antitrypsin deficiency, and glycogen storage disease type 1) are currently treated by mRNA LNPs in preclinical studies.
“Additionally, there are three other GARDs (Crigler-Najjar syndrome type 1, alpha-1 antitrypsin deficiency, and glycogen storage disease type 1) which are currently treated by mRNA LNPs in preclinical studies (Table 2).[181–183]”
From RNA delivery biomaterials for the treatment of genetic and rare diseases (2019) · cites this paper as [183]
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- Authors
- Roseman, D. S., Khan, T., Rajas, F., Jun, L. S., Asrani, K. H., Isaacs, C., Farelli, J. D., & Subramanian, R. R.
- Affiliations
- Alexion Pharmaceuticals (United States) (US)
- Lyon 1 Université (FR)
- Corresponding author
- Subramanian, Romesh R.
- Venue
- Molecular Therapy
- Publisher
- Elsevier BV
- Published
- 2018-03
- Volume
- 26
- Issue
- 3
- Pages
- 814-821
- ISSN
- 1525-0016 (ISSN-L)
- PMC
- PMC5910675
- OpenAlex
- W2782611922
- Cited by
- 72
- References
- 26
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 7 · 2023: 9 · 2022: 9 · 2021: 13 · 2020: 9 · 2019: 9 · 2018: 2
- FWCI
- 7.05
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Molecular Therapy (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- Funders
- Alexion Pharmaceuticals
- Topics
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- glycogen storage disease type Ia, glucose-6-phosphatase, fasting hypoglycemia, liver glycogen, hepatic triglycerides, hypoglycemia treatment
- MeSH terms
- Animals, Blood Glucose, Disease Models, Animal, Fasting, Glucose-6-Phosphatase, Glycogen Storage Disease, Immunohistochemistry, Liver, Male, RNA, Messenger, Protein Engineering, Genetic Therapy, Biomarkers, Gene Expression, Mice, Knockout, Mice, Metabolic Networks and Pathways
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