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Oxidative and Energy Metabolism as Potential Clues for Clinical Heterogeneity in Nucleotide Excision Repair Disorders

2014; Elsevier BV; Volume: 135; Issue: 2 Linguagem: Inglês

10.1038/jid.2014.365

1523-1747

Mohsen Hosseini, Khaled Ezzedine, Alain Taı̈eb, Hamid Rezvani,

Cancer-related Molecular Pathways

Nucleotide excision repair (NER) is an important DNA repair pathway involved in the removal of a wide array of DNA lesions. The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-oculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome (UVSS), trichothiodystrophy (TTD), or combined syndromes including XP/CS, XP/TTD, CS/TTD, and COFS/TTD. In addition to their well-characterized role in the NER signaling pathway, NER factors also seem to be important in biological processes that are not directly associated with DNA damage responses, including mitochondrial function and redox homeostasis. The potential causative role of these factors in the large clinical spectrum seen in NER diseases is discussed in this review. Nucleotide excision repair (NER) is an important DNA repair pathway involved in the removal of a wide array of DNA lesions. The absence or dysfunction of NER results in the following distinct disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS), cerebro-oculo-facio-skeletal (COFS) syndrome, UV-sensitive syndrome (UVSS), trichothiodystrophy (TTD), or combined syndromes including XP/CS, XP/TTD, CS/TTD, and COFS/TTD. In addition to their well-characterized role in the NER signaling pathway, NER factors also seem to be important in biological processes that are not directly associated with DNA damage responses, including mitochondrial function and redox homeostasis. The potential causative role of these factors in the large clinical spectrum seen in NER diseases is discussed in this review. base-excision repair cerebro-oculo-facio-skeletal Cockayne syndrome A and B global genome nucleotide excision repair nuclear excision repair oxidative phosphorylation reactive oxygen species transcription-coupled nucleotide excision repair trichothiodystrophy UV-sensitive syndrome xeroderma pigmentosum