In vivo genome editing using nuclease-encoding mRNA corrects SP-B deficiency
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Following i.t. co-administration of chitosan-PLGA nanoparticles encapsulating ZFN mRNA and AAV containing a DNA donor, SP-B expression was maintained for as long as 20 days in the lungs, which prevented deterioration of lung function and resulted in longer lifetimes compared with negative controls.
“Following intratracheal (i.t.) co-administration of nanoparticles encapsulating ZFN mRNA and AAV containing a DNA donor, SP-B expression was maintained for as long as 20 days in the lungs, which prevented the deterioration of lung function and resulted in longer lifetimes compared with negative controls.[219]”
From RNA delivery biomaterials for the treatment of genetic and rare diseases (2019) · cites this paper as [219]
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MethodSultana, N., Hadas, Y., Sharkar, M. T. K., Kaur, K., Magadum, A., Kurian, A. A., Hossain, N., Alburquerque, B., Ahmed, S. M. M., Chepurko, E., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.03.019 · Cited by 45 · see citing works
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“As an alternative approach, researchers have found that antibodies with intact structure and bioactivities can be produced in vivo by delivering mRNA prepared by IVT technique [10, 11].”
Are inhaled mRNA vaccines safe and effective? A review of preclinical studies
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“Mice not receiving the mRNA nanoparticles lost too much weight and reached a humane endpoint.”
Gene Therapy Potential for Genetic Disorders of Surfactant Dysfunction
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“, 2020) and gene editing approaches (Mahiny et al., 2015; Jacob et al., 2017) have demonstrated that complementing SP-B expression in AEC2s restores the phenotypic defect in vitro and in vivo.”
BackgroundRNA ‐based therapies for genodermatoses
Bornert, O., Peking, P., Bremer, J., Koller, U., van den Akker, P. C., Aartsma-Rus, A. M., Pasmooij, A. M. G., Murauer, E. M., & Nyström, A. (2016) · Experimental Dermatology · doi:10.1111/exd.13141 · Cited by 37 · see citing works
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Genetic therapies for cystic fibrosis lung disease
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Genetic Modification of the Lung Directed Toward Treatment of Human Disease
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“This type of NPs was chosen because they have been already used for several applications of pulmonary nucleic acid delivery (44-46).”
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mRNA delivery via non-viral carriers for biomedical applications
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Epigenetic Mechanisms in Parenchymal Lung Diseases: Bystanders or Therapeutic Targets?
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“provided a successful example of gene editing in surfactant B (SP-B)-deficient mice via using nuclease-encoding mRNA coupled with chitosan-coated nanoparticles, a safe polymer [164].”
MethodRepairing the heart: State-of the art delivery strategies for biological therapeutics
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Stem cell biology and regenerative medicine for neonatal lung diseases
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“Other strategies, such as in vivo genome editing (70), are being considered and may yield superior results as a separate approach or in combination with cell therapy.”
BackgroundThe notorious R.N.A. in the spotlight - drug or target for the treatment of disease
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“tional delivery of the repair template (with the promotor) in form of an AAV6 (Adeno-associated-virus serotype 6).(170) Successful promoter exchange was demonstrated and resulted in a”
BackgroundNot Just for Tumor Targeting: Unmet Medical Needs and Opportunities for Nanomedicine
Lepeltier, É., Nuhn, L., Lehr, C., & Zentel, R. (2015) · Nanomedicine · doi:10.2217/nnm.15.132 · Cited by 28 · see citing works
mRNA-Mediated Gene Supplementation of Toll-Like Receptors as Treatment Strategy for Asthma In Vivo
Zeyer, F., Mothes, B., Will, C., Carevic, M., Rottenberger, J., Nürnberg, B., Hartl, D., Handgretinger, R., Beer‐Hammer, S., & Kormann, M. (2016) · PLoS ONE · doi:10.1371/journal.pone.0154001 · Cited by 26 · see citing works
“At the predetermined endpoint of the study, airway resistance in response to methacholine (Sigma-Aldrich) was determined using the ex vivomodel of the IPL as previously described [19, 20].”
Steyer, B., Carlson-Stevermer, J., Angenent-Mari, N., Khalil, A. S., Harkness, T., & Saha, K. (2015) · Acta Biomaterialia · doi:10.1016/j.actbio.2015.12.036 · Cited by 26 · see citing works
“Combinatorial synthesis and assessment of non-viral transfection agents for delivering plasmid DNA [26] and siRNA [27,28] have yielded successful strategies both ex vivo and in vivo [29].”
Aspherical, Nanostructured Microparticles for Targeted Gene Delivery to Alveolar Macrophages
Möhwald, M., Pinnapireddy, S. R., Wonnenberg, B., Pourasghar, M., Jurisic, M., Jung, A., Fink‐Straube, C., Tschernig, T., Bakowsky, U., & Schneider, M. (2017) · Advanced Healthcare Materials · doi:10.1002/adhm.201700478 · Cited by 24 · see citing works
Interaction design in mRNA delivery systems
Yu, M., Lin, L., Zhou, D., & Liu, S. (2024) · Journal of Controlled Release · doi:10.1016/j.jconrel.2024.11.038 · Cited by 23 · see citing works
Tam, Y. K., Madden, T. D., & Hope, M. J. (2016) · Journal of Drug Targeting · doi:10.1080/1061186x.2016.1221955 · Cited by 20 · see citing works
“The potential therapeutic applications of mRNA are remarkably broad and include prophylactic and therapeutic vaccines for infectious disease and cancer, respectively [36,37], protein replacement therapy as treatment for inherited and acquired genetic diseases [38–40], applications in regenerative medicine including th…”
BackgroundNanomedicine Innovations for Lung Cancer Diagnosis and Therapy
Cardoso, V. M. D. O., Bistaffa, M. J., Sterman, R. G., de Lima, L. L. P., Toldo, G. S., Cancino‐Bernardi, J., & Zucolotto, V. (2024) · ACS Applied Materials & Interfaces · doi:10.1021/acsami.4c16840 · Cited by 21 · see citing works
Nonviral targeted mRNA delivery: principles, progresses, and challenges
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“142 Researchers developed the NPs containing positively charged chitosan or PLGA tightly bound to RBCs, which were mainly absorbed by the lung rather than the liver and spleen.”
Barnett, R. C., Lin, X., Barravecchia, M., Norman, R., Bentley, K. L. D. M., Fazal, F., Young, J. L., & Dean, D. A. (2017) · Experimental Biology and Medicine · doi:10.1177/1535370217713000 · Cited by 20 · see citing works
“A second study from the same group developed a novel zinc finger nuclease to target the SP-B cassette and delivered this to the lung as a modified mRNA using chitosan-coated poly(lactic-co-glycolic) acid nanoparticles.(31) When delivered intratracheally along with Adeno-Associated virus 6 carrying a wild type copy of…”
Lindel, F., Dodt, C., Weidner, N., Noll, M., Bergemann, F., Behrendt, R., Fischer, S., Dietrich, J., Cartellieri, M., Hamann, M. V., et al. (2019) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2019.10.006 · Cited by 20 · see citing works
Impact of gene editing on the study of cystic fibrosis
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“…modified mRNA encoding site-specific nucleases delivered with chitosan nanoparticles, and AAV to deliver the donor, resulted in precise editing in the lungs, within a notable phenotypic change in a well-established transgenic mouse model of surfactant protein B deficiency (Mahiny et al. 2015).”
BackgroundModified mRNA as a new therapeutic option for pediatric respiratory diseases and hemoglobinopathies
Antony, J. S., Dewerth, A., Haque, A., Handgretinger, R., & Kormann, M. (2015) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-015-0022-6 · Cited by 18 · see citing works
“SP-B deficient mice due to genetic correction in alveolar type II cells [13].”
BackgroundAn update on diagnosis and treatments of childhood interstitial lung diseases
Marczak, H., Krenke, K., Griese, M., Carlens, J., Seidl, E., Gilbert, C., Emiralioğlu, N., Torrent‐Vernetta, A., Willemse, B. W. M., Epaud, R., et al. (2025) · Breathe · doi:10.1183/20734735.0004-2025 · Cited by 17 · see citing works
“SP-B deficiency was first targeted because of its loss of function mechanism induced by bi-allelic variants [134 – 136].”
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New Directions in Pulmonary Gene Therapy
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Emerging Treatments for Childhood Interstitial Lung Disease
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“Viral vectors (i.e., retroviral vectors, lentiviral vectors, adeno-associated viral [AAV] vectors, or adenoviral [Ad]-based vectors) have shown great potential in gene modulation, particularly for SP-B deficiency [99–101].”
BackgroundSalient Features of Endonuclease Platforms for Therapeutic Genome Editing
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Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing
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“These findings offer valuable insights into the potential effectiveness of gene editing approaches for addressing SP-B deficiency [145].”
BackgroundNanoparticles‐Mediated CRISPR/Cas Gene Editing Delivery System
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Advances and Strategies in Enhancing mRNA Cancer Vaccines
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Multimeric RNAs for efficient RNA-based therapeutics and vaccines
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- Authors
- Mahiny, A. J., Dewerth, A., Mays, L. E., Alkhaled, M., Mothes, B., Malaeksefat, E., Loretz, B., Rottenberger, J., Brosch, D. M., Reautschnig, P., Surapolchai, P., Zeyer, F., Schams, A., Carevic, M., Bakele, M., Griese, M., Schwab, M., Nürnberg, B., Beer-Hammer, S., Handgretinger, R., Hartl, D., Lehr, C.-M., & Kormann, M. S. D.
- Affiliations
- University of Tübingen (DE)
- Helmholtz Centre for Infection Research (DE)
- German Center for Lung Research (DE)
- Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology (DE)
- Corresponding author
- Lehr, Claus-Michael
- Kormann, Michael S D
- ORCID
- Venue
- Nature Biotechnology
- Published
- 2015-05-18
- Volume
- 33
- Issue
- 6
- Pages
- 584-586
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- OpenAlex
- W1750553863
- Cited by
- 139
- References
- 18
- Citations by year
- 2026: 2 · 2025: 9 · 2024: 12 · 2023: 8 · 2022: 12 · 2021: 11 · 2020: 9 · 2019: 16 · 2018: 13 · 2017: 16 · 2016: 24 · 2015: 7
- FWCI
- 8.69
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Biotechnology (publishedVersion)
- PubMed (publishedVersion)
- HZI (Helmholtz Centre for Infection Research) (submittedVersion)
- Funders
- European Respiratory Society
- Deutsche Forschungsgemeinschaft (DFG KO 4258/2-1, 4258/2-1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- in vivo gene editing, surfactant protein B deficiency, surfactant protein B, gene therapy, hematopoietic stem cells, HBB mutations, CRISPR/Cas9
- MeSH terms
- Animals, Asthma, Disease Models, Animal, Humans, Mice, Transgenic, Pulmonary Alveolar Proteinosis, RNA, Messenger, RNA Editing, Lung Diseases, Interstitial, Pulmonary Surfactant-Associated Protein B, Chitosan, Mice, Nanoparticles
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