Sayantani Halder,Amity University Kolkata
Xeroderma Pigmentosum (XP) is a rare inherited human syndrome (recessive autosomal trait), caused due to the defect in mechanism of repairing of damaged DNA (or mutated DNA) characterized by hypersensitivity to sunlight, developing skin cancer at a very early age. The primary cause of this disease is the absence of a functioning Nucleotide Excision Repair (NER) mechanism in the human body. NER is a mechanism that depicts the repair of damaged DNA caused by Ionizing Radiations like UV radiation. In the case of humans, due to prolonged staying away from sunlight of our ancestors, all the mechanisms, concerned with repairing of damaged DNA have ceased working, except the NER mechanism. Humans possess only the NER pathway, for repairing damaged DNA and if this mechanism by any reason is absent in humans then it may cause certain lethal genetic disorders like XP.
The syndrome is characterized by Hypersensitivity to sunlight, severe sunburns with blistering, basal cell carcinoma, marked freckle-like pigmentation of the face, certain Ocular abnormalities and also Neurological Disorders.
Analysis has shown that the syndrome involves at-least 10 Xeroderma Pigmentosum genes for its causing. Malfunction of any one of the gene causes the disease. More than half of all the cases in the US results in XP syndrome due to the mutations of 3 genes solely- XPC, ERCC2 and POLH genes. Instances of the disease vary from 1out of 20,000 in Japan to 1 in 250,000 in the USA, 2.3 per million live births in Western Europe and 1 out of 370 in India. The skin irritations can ameliorate by using sunscreens, sun avoidance methods and recurrent tumour excision, but researchers are still excavating the exact cure procedure for XP.
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Source: Xeroderma Pigmentosum: Man Deprived of His Right to LightSubhash Mareddy,1 Jithendra Reddy,2 Subhas Babu,3 and Preethi Balan3. Hindawi Publishing Corporation, The Scientific World Journal , Article ID 534752,https://doi.org/10.1155/2013/534752
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