Xeroderma Pigmentosum(XP)

As a result ,person with XP are extremely sensitive to sunlight Even very limited exposure to the direct rays of the sun can produce large numbers of dark-pigmented spots on exposed areas of the body and a greatly elevated risk of developing disfiguring and fatal skin cancers

!he mechanism about XP ------nucleotide excision repair deficiency

" #
$hen sub%ected to ultraviolet radiation ,ad%acent" # pyrimidines" # on a &'A strand have a tendency to interact with one another to form a covalent" # dimer complex "example as !!-- #

 (nce !! is formed, ultravioletradiated &'A will not be repaired correctly !he replication and the transcription of &'A will be influenced seriously

 !)* ++ )--- a crucial link between transcription and &'A repair

XP, and XP& are two subunits of !)* ++ )

 +n persons with XP who carry specific mutations in the XP& gene XP& gene encodes a subunit of the !*++ ) re-uired for transcription initiation" # .o, /utations in XP& could lead to defect" # in both &'A repair and transcription

nucleotide excision repair

)ow to help XP patients0

.ome help for XP patients may be on the way in the form of skin creams that contain &'A repair en1ymes !he en1yme are contained in liposomes" # that can apparently penetrate " # the outer layer of the skin and participate in repair pathways

 XP is a very rare condition ,but colon cancer" # is relatively common +t is estimated that up to 23 percent of colon cancer cases can be attributed to mutations in the genes that encode the proteins re-uired for mismatch repair /utations that cripple the mismatch repair system inevitably lead to higher mutation rate in other genes because mistakes made during replication are not corrected