Xeroderma Pigmentosum Nov 21st 2005. Diana Mok Kaitlin Myers Thao Nguyen T. Nguyen. Introduction. First described in 1874 by Hebra and Kaposi 1882: the term XP is first used Rare disorder transmitted in an autosomal recessive manner
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Nov 21st 2005
Thao Nguyen T. Nguyen
+ Europe: 1 in 250,000 (XPC most common)
+ Japan: 1 in 40,000 (XPA most common)
~Global Genome (GG-NER)
~Transcription coupled (TC-NER)
After detection, open complex formed.
XPG gene required.
Products of XPB & XPD part of 9-subunit protein complex (TFIIH) needed for complex formation as well.
Damaged DNA removed.
XPG & XPF gene encode endonucleases.
XPF gene product also functions as an endonuclease.
Gap filled with new DNA by action polymerase.
UV-B radiation causes immunosuppressive effects that may be pathogenesis of XP.
XP patient’s skin have depletion of Langerhans cells due to UV radiation.
Defects in cell-mediated immunity reported in XP:
~impaired response to recall antigens
~decreased circulatory T-helper cells to supressor cells ratio
~reduced natural killer cell activity
“I’m very grateful to God
that I’m still alive.”
Never liked the outdoors as a child
Fell ill in sunlight
Parents signed her up for several outdoor sports to shake her out of it
As adult found the XP website, sent in a letter
Now learning how to protect herself, balance her time, and enjoy her life.
“I can’t find any doctor in this
area (West Virginia) who has
any concept of what it means
to have a light sensitivity disorder.”
Shelley is ten years old
Member of the group Children of the Moon
Has created her own website
Has house and car with UV-protected windows
Goes to school with UV protected windows
Likes the Backstreet Boys, her dog, and Nintendo