Genetic Correction of Stem Cells in the Treatment of Inherited Diseases and Focus on Xeroderma Pigmentosum

International Journal of Molecular Sciences

Sophie Rouanet¹  Emilie Warrick²  Yannick Gache¹  Sabine Scarzello¹  Marie-Françoise Avril³  Françoise Bernerd² 

[1] Genetics and Physiopathology of Epithelial Cancers, INSERM U 1081-CNRS UMR 7284-UNS, Institute for Research on Cancer and Aging, Nice, Medical school, 28 Avenue de Valombrose, 06107 Nice Cedex 2, France; E-Mails:;L’Oréal Research and Innovation, 92217 Clichy, France; E-Mails:;Hopital Cochin, Pavillon Tarnier, APHP, Université Paris 6, 75006 Paris, France; E-Mail:

关键词: stem cells;    skin;    epidermis;    cancer;    DNA repair;    genetic correction;    xeroderma pigmentosum;   

DOI  :  10.3390/ijms141020019

来源: mdpi

【 摘 要 】

Somatic stem cells ensure tissue renewal along life and healing of injuries. Their safe isolation, genetic manipulation ex vivo and reinfusion in patients suffering from life threatening immune deficiencies (for example, severe combined immunodeficiency (SCID)) have demonstrated the efficacy of ex vivo gene therapy. Similarly, adult epidermal stem cells have the capacity to renew epidermis, the fully differentiated, protective envelope of our body. Stable skin replacement of severely burned patients have proven life saving. Xeroderma pigmentosum (XP) is a devastating disease due to severe defects in the repair of mutagenic DNA lesions introduced upon exposure to solar radiations. Most patients die from the consequences of budding hundreds of skin cancers in the absence of photoprotection. We have developed a safe procedure of genetic correction of epidermal stem cells isolated from XP patients. Preclinical and safety assessments indicate successful correction of XP epidermal stem cells in the long term and their capacity to regenerate a normal skin with full capacities of DNA repair.

【 授权许可】

CC BY   
© 2013 by the authors; licensee MDPI, Basel, Switzerland