Abstract
Tangier disease is a rare familial dyslipoproteinemia characterized by hypocholesterolemia, moderate hypertriglyceridemia, abnormal chylomicron remnants, low levels of low density lipoproteins (LDL), and a marked deficiency of high density lipoproteins (HDL) (1–4). Clinically these patients are characterized by hepatosplenomegaly, recurrent transient neuropathy, lymphadenopa-thy, and orange tonsils (1–4). The characteristic apolipoprotein profile present in Tangier disease is a severe reduction in apolipoproteins (apo) A-I and apoA-II. Previous studies have established that the reduced plasma levels of apoA-I and apoA-II in Tangier disease are due to increased catabolism rather than reduced synthesis of the A-I and A-II apolipoproteins (5). In the present report, we will review our recent studies on the molecular defect in Tangier disease.
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Brewer, H.B., Bojanovski, D., Gregg, R.E., Law, S.W. (1986). Recent Studies on the Metabolic Defect in Tangier Disease. In: Sirtori, C.R., Nichols, A.V., Franceschini, G. (eds) Human Apolipoprotein Mutants. NATO ASI Series, vol 112. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-9474-1_14
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DOI: https://doi.org/10.1007/978-1-4615-9474-1_14
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