One of Tangier's most striking characteristics is the dramatic deficiency of high-density lipoprotein (HDL)--the so-called good cholesterol that is believed to transport excessive cholesterol from the bloodstream and transfer it to the liver where it can be expelled. The disease--also characterized by enlarged liver and spleen, peripheral neuropathy, lipid deposits in various body parts, and premature coronary artery disease--was seen as a perfect dysfunctional model for the elusive molecular basis of reverse cholesterol transport. Further, the connection with coronary artery disease (CAD), and correlation between low HDL levels and risk for CAD meant to researchers that a better understanding of Tangier could aid in fighting heart disease, a leading killer in the civilized world.
In the late 1990s, as new methods and advanced technologies in genetics became available, researchers broke into the final stretch. A linkage study mapped the gene to 9q31 in 19982 and in June of that year, ...
