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XERODERMA pigmentosum - WikiVidi Documentary
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small; as such, individuals with the disease are often colloquially referred to as "Moon children." Multiple basal cell carcinomas and other skin malignancies frequently occur at a young age in those with XP; metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in XP victims. This disease is present in both sexes and in all races, with an incidence of 1:250,000 in the United States. XP is roughly six times more common in Japanese people than in other groups. Normally, damage to DNA in epidermal cells occurs during exposure to UV light. The absorption of the high-energy light leads to the formation of pyrimidine dimers, namely cyclobutane-pyrimidine dimers and pyrimidine-6-4-pyrimidone photoproducts. ...
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Shortcuts to chapters:
00:01:34 Genetics
00:04:13 Functions of XP repair proteins
00:06:41 Treatment
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Wikipedia link: https://en.wikipedia.org/wiki/....Xeroderma_pigmentosu
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