A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations

Pervaiz, Muhammad Khalid; Gau, Gerald T.; Jaffe, Allan S.; Saenger, Amy K.; Baudhuin, Linnea M.; Ellison, Jay W.

doi:10.1007/8904_2011_81

Cited by 16 publications

(10 citation statements)

References 12 publications

(18 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, loss-of-function mutations in the ABCA1 gene in humans positively correlate with aortic intima thickness (6). ABCA1 mutations block the capacity of ABCA1 to induce macrophage cholesterol efflux and have been shown to promote atherosclerosis (7).…”

Section: Introductionmentioning

confidence: 99%

Allicin induces the upregulation of ABCA1 expression via PPARγ/LXRα signaling in THP-1 macrophage-derived foam cells

Lin

Liu

et al. 2017

International Journal of Molecular Medicine

View full text Add to dashboard Cite

Allicin is considered anti-atherosclerotic due to its antioxidant and anti-inflammatory effects, which makes it an important drug for the prevention and treatment of atherosclerosis. However, the effects of allicin on foam cells are unclear. Thus, in this study, we examined the effects of allicin on lipid accumulation via peroxisome proliferator-activated receptor γ (PPARγ)/liver X receptor α (LXRα) in THP-1 macrophage-derived foam cells. THP-1 cells were exposed to 100 nM phorbol myristate acetate (PMA) for 24 h, and then to oxydized low-density lipoprotein (ox-LDL; 50 mg/ml) to induce foam cell formation. The results of Oil Red O staining and high-performance liquid chromatography (HPLC) revealed showed that pre-treatment of the foam cells with allicin decreased total cholesterol, free cholesterol (FC) and cholesterol ester levels in cells, and also decreased lipid accumulation. Moreover, allicin upregulated ATP binding cassette transporter A1 (ABCA1) expression and promoted cholesterol efflux. However, these effects were significantly abolished by transfection with siRNA targeting ABCA1. Furthermore, PPARγ/LXRα signaling was activated by allicin treatment. The allicin-induced upregulation of ABCA1 expression was also abolished by PPARγ inhibitor (GW9662) and siRNA or LXRα siRNA co-treatment. Overall, our data demonstrate that the allicin-induced upregulation of ABCA1 promotes cholesterol efflux and reduces lipid accumulation via PPARγ/LXRα signaling in THP-1 macrophage-derived foam cells.

show abstract

Section: Introductionmentioning

confidence: 99%

Allicin induces the upregulation of ABCA1 expression via PPARγ/LXRα signaling in THP-1 macrophage-derived foam cells

Lin

Liu

et al. 2017

International Journal of Molecular Medicine

View full text Add to dashboard Cite

show abstract

“…She was found to have three mutations in the ABCA1 gene, A1046D (c.3137C>A) in exon 22; Y1532C (c.4595A>G) in exon 34, and W1699C (c.5097G>T) in exon 37. All three have been reported to affect cholesterol efflux [23]. …”

Section: Introductionmentioning

confidence: 99%

High-density lipoprotein metabolism, composition, function, and deficiency

Schaefer

Anthanont

Asztalos

2014

Current Opinion in Lipidology

View full text Add to dashboard Cite

Purpose of review Our purpose was to examine recent advances in our knowledge of high density lipoprotein (HDL) metabolism, composition, function, and coronary heart disease (CHD), as well as marked HDL deficiency states due to mutations at the apolipoprotein (apo) A-I, ATP binding cassette transfer protein A1 (ABCA1), and lecithin cholesterol acyltransferase (LCAT) gene loci. Recent findings It has been documented that apoA-I, myeloperoxidase (MPO), and paraoxonase 1 (PON1) form a complex in HDL that is critical for HDL binding and function. MPO has a negative impact on HDL function, while PON1 has a beneficial effect. Patients that lack apoA-I develop markedly premature CHD. Patients that lack ABCA1 transporter function have only very small discoidal preβ-1 HDL, and develop hepatosplenomegaly, intermittent neuropathy and premature CHD, although significant heterogeneity for these disorders has been reported. Patients with LCAT deficiency have abnormal small discoidal low density lipoproteins and HDL particles, and develop kidney failure. Enzyme replacement therapy is being developed for the latter disorder. Summary Recent data indicates that proteins other than apoA-I and apoA-II such as MPO and PON1 have important effects on HDL function. There has been considerable recent progress made in our understanding of HDL protein content and function.

show abstract

“…Even though there is no specific therapy for these patients, it is important to recognize the clinical presentation as low HDL-C levels are an important risk factor for the development of atherosclerosis and subsequent CVD [1,8,13]. Nevertheless, the risk of CVD varies in patients and becomes relevant especially in the presence of additional cardiovascular risk factors [9].…”

Section: Discussionmentioning

confidence: 99%