Epidermolysis Bullosa
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Medicine ◽  
2022 ◽  
Vol 101 (1) ◽  
pp. e28474
Author(s):  
Manuel Murciano ◽  
Claudia Laterza ◽  
Ettore Attolini ◽  
Sonia Storelli ◽  
Giovanni Dipietro ◽  
...  

Biomedicines ◽  
2022 ◽  
Vol 10 (1) ◽  
pp. 114
Author(s):  
Cameron Meyer-Mueller ◽  
Mark J. Osborn ◽  
Jakub Tolar ◽  
Christina Boull ◽  
Christen L. Ebens

Epidermolysis bullosa (EB) is a group of genetic blistering diseases characterized by mechanically fragile skin and mucocutaneous involvement. Historically, disease management has focused on supportive care. The development of new genetic, cellular, and recombinant protein therapies has shown promise, and this review summarizes a unique gene and cell therapy phenomenon termed revertant mosaicism (RM). RM is the spontaneous correction of a disease-causing mutation. It has been reported in most EB subtypes, some with relatively high frequency, and has been observed in both keratinocytes and fibroblasts. RM manifests as identifiable patches of unaffected, blister-resistant skin and can occur through a variety of molecular mechanisms, including true back mutation, intragenic crossover, mitotic gene conversion, and second-site mutation. RM cells represent a powerful autologous platform for therapy, and leveraging RM cells as a therapeutic substrate may avoid the inherent mutational risks of gene therapy/editing. However, further examination of the genomic integrity and long-term functionality of RM-derived cells, as well in vivo testing of systemic therapies with RM cells, is required to realize the full therapeutic promise of naturally occurring RM in EB.


2022 ◽  
Vol 23 (1) ◽  
pp. 575
Author(s):  
Katharina Woess ◽  
Yuchen Sun ◽  
Hanae Morio ◽  
Anna Stierschneider ◽  
Anna Kaufmann ◽  
...  

Conventional anti-cancer therapies based on chemo- and/or radiotherapy represent highly effective means to kill cancer cells but lack tumor specificity and, therefore, result in a wide range of iatrogenic effects. A promising approach to overcome this obstacle is spliceosome-mediated RNA trans-splicing (SMaRT), which can be leveraged to target tumor cells while leaving normal cells unharmed. Notably, a previously established RNA trans-splicing molecule (RTM44) showed efficacy and specificity in exchanging the coding sequence of a cancer target gene (Ct-SLCO1B3) with the suicide gene HSV1-thymidine kinase in a colorectal cancer model, thereby rendering tumor cells sensitive to the prodrug ganciclovir (GCV). In the present work, we expand the application of this approach, using the same RTM44 in aggressive skin cancer arising in the rare genetic skin disease recessive dystrophic epidermolysis bullosa (RDEB). Stable expression of RTM44, but not a splicing-deficient control (NC), in RDEB-SCC cells resulted in expression of the expected fusion product at the mRNA and protein level. Importantly, systemic GCV treatment of mice bearing RTM44-expressing cancer cells resulted in a significant reduction in tumor volume and weight compared with controls. Thus, our results demonstrate the applicability of RTM44-mediated targeting of the cancer gene Ct-SLCO1B3 in a different malignancy.


Author(s):  
Louise Kimiko Furukawa ◽  
Olga Nella Wolke

Author(s):  
Mathilde C.S.C. Vermeer ◽  
Herman H.W. Sillje ◽  
Hendri H. Pas ◽  
Daniela Andrei ◽  
Peter van der Meer ◽  
...  

2022 ◽  
Vol 23 (1) ◽  
pp. 87
Author(s):  
Kakali Roy ◽  
Mizanul Haque ◽  
Bidisha Roy ◽  
Birendranath Roy

Author(s):  
Daniel L. Seiler ◽  
Marie Kleingarn ◽  
Katja H. Kähler ◽  
Caroline Gruner ◽  
Jovan Schanzenbacher ◽  
...  

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