Abstract
Perspectives of genetic treatment adapted to orphan monogenic genodermatosis have been fueled by tremendous progress in molecular genetics and gene transfer technologies. Xeroderma pigmentosum is a prototype of cancer prone syndromes; it is caused by severe alterations in nucleotide excision repair of DNA lesions introduced during exposure to sunlight. Here, the authors review the molecular basis of the disease and its impact on genotoxic insults caused by sunlight. The authors propose a compilation of preclinical results, revealing rational perspectives of cutaneous genetic correction of xeroderma pigmentosum with respect to appropriate specifications for this orphan and devastating disease.
Acknowledgements
Y Gache and E Warrick both contributed to this work equally. The authors are indebted to Françoise Bernerd for her constant support. Odile Chevallier-Lagente is gratefully acknowledged for her enthusiastic contributions to our projects.
Financial & competing interests disclosure
L’Oréal Recherche is acknowledged for exclusive financial support of the in vitro experiments performed in this study. E Warrick thanks the Association Nationale de la Recherche et de la Technologie (ANRT) and gratefully acknowledges grants from the Fondation René Touraine and the Ligue Nationale Contre le Cancer. S Rouanet is supported by the Association Française contre les Myopathies (AFM). This work was supported by the Fondation de l’Avenir (ET9-551), the AFM (1315; 15521) and the Association pour la Recherche sur le Cancer (SFI201212055859). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.