Disorders of DNA repair

Abstract

Key Features: Nucleotide excision repair (NER) is an essential system for correcting ultraviolet (UV)-induced DNA damages. Lesions remaining in DNA due to reduced capacity of NER may result in cellular death, premature aging, mutagenesis, and carcino-genesis of the skin. NER is an important protection against these changes. There are three rare genodermatoses resulting from defects in NER: xeroderma pigmento-sum (XP), Cockayne syndrome (CS), and tri-chothiodystrophy (TTD) At present, there is no cure for any human genetic disorder. Early diagnosis and symptomatic treatment of neurological, ocular and dermatological abnormalities are the mainstays of therapy. Especially for XP, early diagnosis, rigorous sun protection, and early detection and treatment of cancers may reduce the more serious skin and eye problems and prolong life. © 2010 Springer-Verlag Berlin Heidelberg.