Chemistry is an experimental science, and the best way to enjoy it and learn about it is performing experiments.Introducing a new discovery about 145783-14-8, Name is 4,6-Dichloro-5-nitro-2-(propylthio)pyrimidine, molecular formula is , belongs to pyrimidines compound. In a document, author is Martens, M. C., Category: pyrimidines.
Genetically caused UV sensitivity Photocarcinogenesis and UV protection in children
Background. Exposure of skin to ultraviolet (UV) radiation can cause DNA damage. An intact nucleotide excision repair (NER) system usually prevents the formation of DNA mutations as a consequence of such lesions; however, defects in the NER system are the cause of a variety of rare genetic syndromes. Objective. Overview of the current understanding of photocarcinogenesis and how defects in the NER system increase the risk of skin cancer. Furthermore, a brief review of the diagnostics and treatment of xeroderma pigmentosum (XP) as well as UV protection is provided. Material and methods. A literature search was performed to summarize the current knowledge on photocarcinogenesis, NER defect syndromes and UV protection. Results. Energy transfer from UV radiation to DNA leads to formation of cyclobutane pyrimidine dimers (CPD) and pyrimidine-pyrimidone (6-4) photoproducts (6-4 PP). If not repaired by NER these DNA lesions are transformed into DNA mutations and drive carcinogenesis. Genetic defects in the NER system are the underlying cause of a variety of rare mostly autosomal recessive genetic syndromes, such as the Cockayne syndrome (CS), trichothiodystrophy (TTD), cerebrooculofacioskeletal (COFS) syndrome, UV-sensitive syndrome ((UVS)-S-S), and XP depending on which NER gene is affected. These syndromes are associated with increased UV sensitivity, neurological disorders, and/or increased risk of skin cancer. The first skin changes in XP patients usually occur at the age of 3-5 years and nonmelanoma skin cancer is first diagnosed at a median age of 9 years. Conclusion. Strict UV protection is essential for patients with rare DNA repair defect syndromes, such as XP. The example of XP shows in time-lapse how important UV protection is for all children.
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Reference:
Pyrimidine | C4H4N2 – PubChem,
,Pyrimidine – Wikipedia