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Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa

Michael Ablinger, Thomas Lettner, Nicole Friedl, Hannah Potocki, Theresa Palmetzhofer, Ulrich Koller, Julia Illmer, Bernadette Liemberger, Stefan Hainzl, Alfred Klausegger, et al.
(2021) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 22(7).
Author
Organization
Abstract
Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes. The rarity of the disease and the heterogeneity of the underlying mutations renders therapy developments challenging. However, the high number of short in-frame exons facilitates the use of antisense oligonucleotides (AON) to restore collagen 17 (C17) expression by inducing exon skipping. In a personalized approach, we designed and tested three AONs in combination with a cationic liposomal carrier for their ability to induce skipping of COL17A1 exon 7 in 2D culture and in 3D skin equivalents. We show that AON-induced exon skipping excludes the targeted exon from pre-mRNA processing, which restores the reading frame, leading to the expression of a slightly truncated protein. Furthermore, the expression and correct deposition of C17 at the dermal-epidermal junction indicates its functionality. Thus, we assume AON-mediated exon skipping to be a promising tool for the treatment of junctional epidermolysis bullosa, particularly applicable in a personalized manner for rare genotypes.
Keywords
Inorganic Chemistry, Organic Chemistry, Physical and Theoretical Chemistry, Computer Science Applications, Spectroscopy, Molecular Biology, General Medicine, Catalysis, molecular therapy, junctional epidermolysis bullosa, type XVII collagen, splice mutation, antisense oligonucleotides, exon skipping, topical therapy, liposomes

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MLA
Ablinger, Michael, et al. “Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.” INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, vol. 22, no. 7, 2021, doi:10.3390/ijms22073326.
APA
Ablinger, M., Lettner, T., Friedl, N., Potocki, H., Palmetzhofer, T., Koller, U., … Wally, V. (2021). Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22(7). https://doi.org/10.3390/ijms22073326
Chicago author-date
Ablinger, Michael, Thomas Lettner, Nicole Friedl, Hannah Potocki, Theresa Palmetzhofer, Ulrich Koller, Julia Illmer, et al. 2021. “Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.” INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 22 (7). https://doi.org/10.3390/ijms22073326.
Chicago author-date (all authors)
Ablinger, Michael, Thomas Lettner, Nicole Friedl, Hannah Potocki, Theresa Palmetzhofer, Ulrich Koller, Julia Illmer, Bernadette Liemberger, Stefan Hainzl, Alfred Klausegger, Manuela Reisenberger, Jo Lambert, Mireille Van Gele, Eline Desmet, Els Van Maelsaeke, Monika Wimmer, Roland Zauner, Johann W. Bauer, and Verena Wally. 2021. “Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa.” INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 22 (7). doi:10.3390/ijms22073326.
Vancouver
1.
Ablinger M, Lettner T, Friedl N, Potocki H, Palmetzhofer T, Koller U, et al. Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021;22(7).
IEEE
[1]
M. Ablinger et al., “Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa,” INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, vol. 22, no. 7, 2021.
@article{8758120,
  abstract     = {{Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes. The rarity of the disease and the heterogeneity of the underlying mutations renders therapy developments challenging. However, the high number of short in-frame exons facilitates the use of antisense oligonucleotides (AON) to restore collagen 17 (C17) expression by inducing exon skipping. In a personalized approach, we designed and tested three AONs in combination with a cationic liposomal carrier for their ability to induce skipping of COL17A1 exon 7 in 2D culture and in 3D skin equivalents. We show that AON-induced exon skipping excludes the targeted exon from pre-mRNA processing, which restores the reading frame, leading to the expression of a slightly truncated protein. Furthermore, the expression and correct deposition of C17 at the dermal-epidermal junction indicates its functionality. Thus, we assume AON-mediated exon skipping to be a promising tool for the treatment of junctional epidermolysis bullosa, particularly applicable in a personalized manner for rare genotypes.}},
  articleno    = {{3326}},
  author       = {{Ablinger, Michael and Lettner, Thomas and Friedl, Nicole and Potocki, Hannah and Palmetzhofer, Theresa and Koller, Ulrich and Illmer, Julia and Liemberger, Bernadette and Hainzl, Stefan and Klausegger, Alfred and Reisenberger, Manuela and Lambert, Jo and Van Gele, Mireille and Desmet, Eline and Van Maelsaeke, Els and Wimmer, Monika and Zauner, Roland and Bauer, Johann W. and Wally, Verena}},
  issn         = {{1422-0067}},
  journal      = {{INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES}},
  keywords     = {{Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis,molecular therapy,junctional epidermolysis bullosa,type XVII collagen,splice mutation,antisense oligonucleotides,exon skipping,topical therapy,liposomes}},
  language     = {{eng}},
  number       = {{7}},
  pages        = {{13}},
  title        = {{Personalized development of antisense oligonucleotides for exon skipping restores type XVII collagen expression in junctional epidermolysis bullosa}},
  url          = {{http://doi.org/10.3390/ijms22073326}},
  volume       = {{22}},
  year         = {{2021}},
}
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