Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency
Open accessAbstract
Alpha 1-antitrypsin (AAT) deficiency arises from an inherited mutation in the SERPINA1 gene. The disease causes damage in the liver where the majority of the AAT protein is produced. Lack of functioning circulating AAT protein also causes uninhibited elastolytic activity in the lungs leading to AAT deficiency-related emphysema. The only therapy apart from liver transplantation is augmentation with human AAT protein pooled from sera, which is only reserved for patients with advanced lung disease caused by severe AAT deficiency. We tested modified mRNA encoding human AAT in primary human hepatocytes in culture, including hepatocytes from AAT deficient patients. Both expression and functional activity were investigated. Secreted AAT protein increased from 1,14 to 3,43 µg/ml in media from primary human hepatocytes following mRNA treatment as investigated by ELISA and western blot. The translated protein showed activity and protease inhibitory function as measured by elastase activity assay. Also, mRNA formulation in lipid nanoparticles was assessed for systemic delivery in both wild type mice and the NSG-PiZ transgenic mouse model of AAT deficiency. Systemic intravenous delivery of modified mRNA led to hepatic uptake and translation into a functioning protein in mice. These data support the use of systemic mRNA therapy as a potential treatment for AAT deficiency.
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The therapeutic potential of mRNA-based protein replacement therapies has been tested in other metabolic disorders in preclinical studies, including hereditary tyrosinaemia type I, acute intermittent porphyria, Fabry disease, Crigler-Najjar syndrome type 1, α1 antitrypsin deficiency, methylmalonic acidaemia/aciduria, arginase deficiency, citrin deficiency and glycogen storage disease type I.
“The therapeutic potential of mRNA-based protein replacement therapies has also been tested in other metabolic disorders in preclinical studies, including hereditary tyrosinaemia type I (HTI)142, acute intermittent porphyria222,223, Fabry disease224,225, Crigler–Najjar syndrome type 1 (ref.226), α1 antitrypsin deficiency227, methylmalonic acidaemia/aciduria228, arginase deficiency229, citrin defic”
From Lipid nanoparticles for mRNA delivery (2021) · cites this paper as [223]
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- Authors
- Karadagi, A., Cavedon, A. G., Zemack, H., Nowak, G., Eybye, M. E., Zhu, X., Guadagnin, E., White, R. A., Rice, L. M., Frassetto, A. L., Strom, S., Jorns, C., Martini, P. G. V., & Ellis, E.
- Affiliations
- Karolinska University Hospital (SE)
- Karolinska Institutet (SE)
- Corresponding author
- Ellis, Ewa
- ORCID
- Venue
- Scientific Reports
- Published
- 2020-04-27
- Volume
- 10
- Issue
- 1
- Pages
- 7052-7052
- ISSN
- 2045-2322 (ISSN-L)
- PMC
- PMC7184591
- OpenAlex
- W3020718086
- Cited by
- 54
- References
- 43
- Citations by year
- 2026: 6 · 2025: 9 · 2024: 11 · 2023: 3 · 2022: 16 · 2021: 8 · 2020: 1
- FWCI
- 2.27
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Scientific Reports (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Moderna Inc, Cambridge, MA 02139, USA
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Physical Sciences › Materials Science › Biomaterials › Nanoparticle-Based Drug Delivery
- Keywords
- alpha-1 antitrypsin deficiency, SERPINA1, modified mRNA, lipid nanoparticles, hepatocytes, protein replacement therapy, protease inhibition, elastase activity, liver disease, emphysema
- MeSH terms
- alpha 1-Antitrypsin, Animals, Cells, Cultured, Disease Models, Animal, Enzyme-Linked Immunosorbent Assay, Humans, RNA, Messenger, Blotting, Western, alpha 1-Antitrypsin Deficiency, Nanoparticles
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