Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy.

Abstract

Xeroderma pigmentosum (XP) is a rare, recessively inherited genodermatosis prone to ultraviolet (UV)-induced skin neoplasms from keratinocyte origin, i.e. basal and squamous cell carcinoma. Cells from classic XP patients fail to properly eliminate UV-induced DNA lesions by the nucleotide excision repair (NER) mechanism. A variant form of XP, called XP-V suffers from faulty translesion synthesis. We review here recent data on XP gene products whose alterations affect NER and result in one of the 7 complementation groups of XP. Encouraging results of retrovirus-based genetic correction of XP keratinocytes are summarized and support realistic prospects of gene therapy for the XP-C complementation group.

• Authors: Thierry Magnaldo, Alain Sarasin
• Journal: Cells, tissues, organs (Cells Tissues Organs) Vol. 177 Issue 3 Pg. 189-98 ( 2004) ISSN: 1422-6405 [Print] Switzerland
• PMID: 15388993 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: Copyright 2004 S. Karger AG, Basel

Topics

• DNA Damage (genetics, radiation effects)
• DNA Repair (genetics)
• Genetic Therapy (methods)
• Humans
• Models, Biological
• Skin (metabolism, radiation effects)
• Skin Neoplasms (prevention & control)
• Ultraviolet Rays (adverse effects)
• Xeroderma Pigmentosum (genetics, metabolism, therapy)