Xeroderma Pigmentosum (XP)
is caused by mutations in the XPC gene. More than 40 mutations
in the XPC gene have been found to cause Xeroderma Pigmentosum.
Mutations in this gene are the most common cause of this disorder in the United
States and Europe.
Most XPC gene
mutations prevent the production of any XPC protein. A loss of this protein
keeps cells from repairing DNA damage normally. As a result, abnormalities
accumulate in DNA, causing cells to malfunction and eventually to become
cancerous or die. These problems with DNA repair cause people with XP to be
extremely sensitive to UV rays from sunlight. When UV rays damage genes that
control cell growth and division, cells can grow too fast in an uncontrolled
way. As a result, people with XP have a
greatly increased risk of developing cancer. These cancers occur most
frequently in areas of the body that are exposed to the sun, such as the skin
and eyes.
Unlike some of the
other forms of Xeroderma Pigmentosum (XP), when the disorder is caused by
mutations in the XPC gene it is generally not associated with
neurological abnormalities (such as delayed development and hearing loss). It
is unclear why some people with XP develop neurological abnormalities and
others do not.
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