Tangier Disease

Fredrickson, Donald S.; Altrocchi, Paul H.; Avioli, Louis V.; Goodman, D W; Goodman, Harold S.

doi:10.7326/0003-4819-55-6-1016

Cited by 254 publications

(47 citation statements)

References 14 publications

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“…(16) and by the hypertriglyceridemia found in apo C-II deficiency (3). Abnormalities characterized by low levels of apo A-1, such as fish-eye disease (17) and Tangier disease (18), or structural abnormalities of A-l such as A-1 Milano and A-l Marburg (19) are often accompanied by a disturbance of lipoprotein metabolism resulting in a varying degree of hypertriglyceridemia.…”

Section: Discussionmentioning

confidence: 99%

Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia.

Rees¹,

Stocks²,

Sharpe³

et al. 1985

J. Clin. Invest.

150

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A DNA sequence polymorphism, revealed by digestion of human DNA with the restriction endonuclease Sst-1 and hybridization with an apolipoprotein A-I complementary DNA clone, has been shown to be located in or close to the 3' noncoding region of the apolipoprotein C-III gene. This polymorphism is found in significantly increased prevalence (P < 0.001) in Caucasian hypertriglyceridemic subjects compared with race-matched controls, and its distribution in normal individuals of differing racial origins is reported. Furthermore, no alteration of high density lipoprotein or apolipoprotein A-I and apolipoprotein C-III phenotypes was observed in individuals with or without the polymorphism.

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Section: Discussionmentioning

confidence: 99%

Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia.

Rees¹,

Stocks²,

Sharpe³

et al. 1985

J. Clin. Invest.

150

View full text Add to dashboard Cite

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“…TD is a rare form of HDL cholesterol (HDL-C) deficiency in which patients have mutations in both alleles of ABCA1, resulting in greatly impaired cholesterol efflux and virtually no circulating HDL-C (5). Intracellular cholesterol accumulation in TD patients often results in clinical manifestations of orange tonsils, hepatosplenomegaly, and peripheral neuropathy (5).…”

mentioning

confidence: 99%

Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol

Wellington

Yang

Zhou

et al. 2002

Journal of Lipid Research

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Mutations in ABCA1 uniformly decrease plasma HDL-cholesterol (HDL-C) and reduce cholesterol efflux, yet different mutations in ABCA1 result in different phenotypic effects in heterozygotes. For example, truncation mutations result in significantly lower HDL-C and apoliprotein A-I (apoA-I) levels in heterozygotes compared with nontruncation mutations, suggesting that truncation mutations may negatively affect the wild-type allele. To specifically test this hypothesis, we examined ABCA1 protein expression in response to 9-cis -retinoic acid (9-cis -RA) and 22-R -hydroxycholesterol (22-R -OH-Chol) in a collection of human fibroblasts representing eight different mutations and observed that truncation mutations blunted the response to oxysterol stimulation and dominantly suppressed induction of the remaining full-length allele to 5-10% of wild-type levels. mRNA levels between truncation and nontruncation mutations were comparable, suggesting that ABCA1 expression was suppressed at the protein level. Dominant negative activity of truncated ABCA1 was recapitulated in an in vitro model using transfected Cos-7 cells. Our results suggest that the severe reduction of HDL-C in patients with truncation mutations may be at least partly explained by dominant negative suppression of expression and activity of the remaining full-length ABCA1 allele. These data suggest that ABCA1 requires a physical association with itself or other molecules for normal function and has important pharmacogenetic implications for individuals with truncation mutations.

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“…A familial syndrome consisting of complete or nearly complete absence of plasma high density lipoprotein (HDL) associated with storage of cholesterol esters in reticuloendothelial tissues has been previously reported ( 1,2). It has been given the name Tangier disease after the community of origin of the first two cases.…”

mentioning

confidence: 99%