tangier disease/obesity

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R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males.

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BACKGROUND ATP binding cassette transporter A1 (ABCA1) plays a role in the initial stage of removing cholesterol from the body via cholesterol efflux. Mutations of this gene cause wide-ranging HDL deficiency, as evident in Tangier disease and familial hypoalphalipoproteinemia. The aim of this study

[Familial hypoalphalipoproteinemia. Vergani's disease].

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Deficiencies of lipoproteins occur as genetic disorders or may be presenting features of underlying disease. Familial high density lipoprotein (HDL), or alpha-lipoprotein, deficiency so far described includes Tangier disease, Lecithin: cholesterol acyltransferase (LCAT) deficiency, A-I Variants

Tangier disease four decades of research: a reflection of the importance of HDL.

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Reduced circulating levels of high density lipoprotein cholesterol (HDL-C) are a frequent lipoprotein disorder in coronary heart disease patients and can be caused by either genetic and/or environmental factors (sedentary lifestyle, diabetes mellitus, smoking, obesity or a diet enriched in

[Hypoalphalipoproteinemia and atherosclerosis. Genetic and biochemical profile of 10 families].

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The results of lipoprotein studies performed in 67 members of 10 kindreds with familial hypoalphalipoproteinemia are presented. Probands were ten patients referred to the Lipid Clinic of the National Institute of Cardiology for evaluation of their lipid profile, all of whom had history of a definite

[New aspects of normolipidemic dyslipoproteinemias].

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BACKGROUND Normolipidemic dislipoproteinemias include various disorders of different lipoproteins, of their subfractions or some apolipo-proteins, of primary or secondary origin, which are widespread among general population and, like hyperlipoproteinemias, they are associated with the risk for

GeneReviews®

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Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease

Primary and secondary hypertriglyceridaemia.

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Familial hypertriglyceridaemia is inherited in an autosomal dominant manner. The responsible genetic abnormality is unknown but recently, a novel gene encoding apolipoprotein AV has been linked to familial hypertriglyceridaemia. All patients develop the same phenotype with elevated levels of very

The impact of ATP-binding cassette transporters on metabolic diseases

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Currently, many people worldwide suffer from metabolic diseases caused by heredity and external factors, such as diet. One of the symptoms of metabolic diseases is abnormal lipid metabolism. ATP binding cassette (ABC) transporters are one of the largest transport protein superfamilies that exist in

Diagnosis and treatment of high density lipoprotein deficiency.

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Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk factor for cardiovascular disease (CVD), and is often observed in patients with hypertriglyceridemia, obesity, insulin resistance, and diabetes. Patients with marked

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