scholarly journals siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa

2012 ◽  
Vol 132 (6) ◽  
pp. 1741-1743 ◽  
Author(s):  
Valérie Pendaries ◽  
Géraldine Gasc ◽  
Matthias Titeux ◽  
Laure Tonasso ◽  
José Enrique Mejía ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Specific Inhibition ◽  
Mutant Type ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Allele Specific

Heterogeneous Mutations of the Type VII Collagen Gene (COL7A1) in Dystrophic Epidermolysis Bullosa

2000 ◽  
Vol 98 (s42) ◽  
pp. 18P-18P
Author(s):  
JE Mellerio ◽  
GHS Ashton ◽  
MGS Dunnill ◽  
RAJ Eady ◽  
JA McGrath
Keyword(s):  
Epidermolysis Bullosa ◽  
Collagen Gene ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen

scholarly journals Development of Minicircle Vectors Encoding COL7A1 Gene with Human Promoters for Non-Viral Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa

2021 ◽  
Vol 22 (23) ◽  
pp. 12774
Author(s):  
Xianqing Wang ◽  
Fatma Alshehri ◽  
Darío Manzanares ◽  
Yinghao Li ◽  
Zhonglei He ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Replacement ◽  
Epidermal Keratinocytes ◽  
Viral Gene ◽  
Cmv Promoter ◽  
Human Epidermal Keratinocytes ◽  
Dystrophic Epidermolysis Bullosa ◽  
Type Vii Collagen ◽  
Recessive Dystrophic Epidermolysis Bullosa ◽  
Col7a1 Gene

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare autosomal inherited skin disorder caused by mutations in the COL7A1 gene that encodes type VII collagen (C7). The development of an efficient gene replacement strategy for RDEB is mainly hindered by the lack of vectors able to encapsulate and transfect the large cDNA size of this gene. To address this problem, our group has opted to use polymeric-based non-viral delivery systems and minicircle DNA. With this approach, safety is improved by avoiding the usage of viruses, the absence of bacterial backbone, and the replacement of the control viral cytomegalovirus (CMV) promoter of the gene with human promoters. All the promoters showed impressive C7 expression in RDEB skin cells, with eukaryotic translation elongation factor 1 α (EF1α) promoter producing higher C7 expression levels than CMV following minicircle induction, and COL7A1 tissue-specific promoter (C7P) generating C7 levels similar to normal human epidermal keratinocytes. The improved system developed here has a high potential for use as a non-viral topical treatment to restore C7 in RDEB patients efficiently and safely, and to be adapted to other genetic conditions.

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