Hereditary Disorders with Defective Repair of UV-Induced DNA Damage
Open accessAbstract
Nucleotide excision repair (NER) is an essential system for correcting ultraviolet (UV)–-induced DNA damage. Lesions remaining in DNA due to reduced capacity of NER may result in cellular death, premature aging, mutagenesis and carcinogenesis of the skin. So, NER is an important protection against these changes. There are three representative genodermatoses resulting from genetic defects in NER: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). In Japan, CS is similarly rare but XP is more common and TTD is less common compared to Western countries. In 1998, we established the system for the diagnosis of these disorders and we have been performing DNA repair and genetic analysis for more than 400 samples since then. At present, there is no cure for any human genetic disorder. Early diagnosis and symptomatic treatment of neurological, ocular and dermatological abnormalities should contribute to prolonging life and elevating QOL in patients.
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TTDA and TTDN1 genes may harbor mutations, but they do not contribute to UV sensitivity.
“TTDA (general transcription factor IIH subunit 5) and TTDN1 (trichothiodystrophy non-photosensitive 1) genes may also harbor a mutation; however, they do not contribute to UV sensitivity [107,160,161,162].”
From Focus on UV-Induced DNA Damage and Repair—Disease Relevance and Protective Strategies (2020) · cites this paper as [160]
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References 23 · Cited by 14
- Authors
- Moriwaki, S.
- Affiliations
- Osaka Medical and Pharmaceutical University (JP)
- Corresponding author
- Moriwaki, Shinichi
- ORCID
- Moriwaki, Shinichi
- Venue
- Japanese Clinical Medicine
- Publisher
- SAGE Publications
- Published
- 2013-01
- Volume
- 4
- Pages
- 29-35
- ISSN
- 1179-6707 (ISSN-L)
- PMC
- PMC3742358
- OpenAlex
- W1984480401
- Cited by
- 14
- References
- 23
- Citations by year
- 2021: 1 · 2020: 3 · 2018: 3 · 2017: 1 · 2016: 5 · 2015: 1
- FWCI
- 0.90
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Japanese Clinical Medicine (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science (24591639)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- nucleotide excision repair, UV-induced DNA damage, xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, genodermatosis, early diagnosis, skin carcinogenesis, premature aging, mutagenesis
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