Familial high-density lipoprotein deficiency (tangier disease): The third Italian case

1988 ◽  
Vol 11 (S2) ◽  
pp. 155-157 ◽  
Author(s):  
G. Bracco ◽  
G. Dotti ◽  
F. Levis ◽  
E. David ◽  
G. Saracco ◽  
...  
Keyword(s):  
High Density Lipoprotein ◽  
Density Lipoprotein ◽  
High Density ◽  
Tangier Disease ◽  
The Third ◽  
Italian Case

Cholesteryl ester transfer activity in plasma of patients with familial high-density lipoprotein deficiency.

1988 ◽  
Vol 34 (9) ◽  
pp. 1812-1815 ◽  
Author(s):  
D L Sparks ◽  
J Frohlich ◽  
P H Pritchard
Keyword(s):  
High Density Lipoprotein ◽  
Cholesteryl Ester ◽  
Density Lipoprotein ◽  
High Density ◽  
Eye Disease ◽  
Tangier Disease ◽  
Transfer Rates ◽  
Transfer Activity ◽  
Lcat Deficiency ◽  
Fish Eye

Abstract We determined cholesteryl ester transfer activity in whole plasma and in lipoprotein-depleted plasma of normolipidemic subjects and of patients with severe high-density lipoprotein (HDL) deficiency: Tangier disease, lecithin:cholesterol acyltransferase (LCAT) deficiency, and "fish-eye" disease. Transfer rates in plasma were positively correlated (r = 0.950) with rates measured in the absence of the endogenous lipoproteins. This suggests that lipoprotein composition and content may not affect total cholesteryl ester transfer activity in normolipidemic and the HDL-deficient subjects. Cholesteryl ester transfer from solid-phase-bound HDL to plasma lipoproteins was decreased by 39% in fish-eye disease and 33% in LCAT deficiency but increased by 57% in Tangier disease, as compared with normal values. Changes were similar for lipoprotein-depleted plasma from the same individuals. Transfer to plasma HDL was significantly decreased in all HDL-deficient patients, whereas transfer to very-low- and low-density lipoproteins was increased only in Tangier disease. Differences in transfer rates between the patients studied appeared to reflect the LCAT activity and the need to transport cholesteryl ester rather than the HDL cholesterol concentration. Thus, the concentration of HDL in plasma does not directly affect total cholesteryl ester transfer activity in HDL deficiency.

Metabolism of High-Density Lipoprotein Apolipoproteins in Tangier Disease

1978 ◽  
Vol 299 (17) ◽  
pp. 905-910 ◽  
Author(s):  
Ernst J. Schaefer ◽  
Conrad B. Blum ◽  
Robert I. Levy ◽  
Leslie L. Jenkins ◽  
Petar Alaupovic ◽  
...  
Keyword(s):  
High Density Lipoprotein ◽  
Density Lipoprotein ◽  
High Density ◽  
Tangier Disease

Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency

2000 ◽  
Vol 11 (2) ◽  
pp. 117-122 ◽  
Author(s):  
Michael R. Hayden ◽  
Susanne M. Clee ◽  
Angela Brooks-Wilson ◽  
Jacques Genest ◽  
Alan Attie ◽  
...  
Keyword(s):  
High Density Lipoprotein ◽  
Cholesterol Efflux ◽  
Regulatory Protein ◽  
Density Lipoprotein ◽  
High Density ◽  
Tangier Disease
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