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Tangier disease
Tangier disease (TD) is a genetic disorder
of cholesterol transport named for the secluded island of
Tangier, located off the coast of Virginia. TD was first identified
in a five-year-old inhabitant of the island who had characteristic
orange tonsils, very low levels of high density lipoprotein
(HDL) or 'good cholesterol', and an enlarged liver and spleen.
TD is caused by mutations in the ABC1 (ATP-binding
cassette) gene on chromosome 9q31. ABC1 codes for a protein
that helps rid cells of excess cholesterol. This cholesterol
is then picked up by HDL particles in the blood and carried
to the liver, which processes the cholesterol to be reused
in cells throughout the body. Individuals with TD are unable
to eliminate cholesterol from cells, leading to its buildup
in the tonsils and other organs.
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The discovery of this important cholesterol
transport gene may lead to a better understanding of the inverse
relationship between HDL levels and coronary artery disease,
an important killer in the US. New drugs that regulate HDL
levels may be developed and such drugs would not only help
individuals with TD, but also people with more common disorders
such as familial HDL deficiency. This is a good illustration
of how research into rare diseases can sometimes help more
common disorders.
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