Familial combined hypolipidemia due to mutations in the ANGPTL3 gene
نویسندگان
چکیده
منابع مشابه
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3...
متن کاملCharacterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.
BACKGROUND Angiopoietin-like protein 3 (ANGPTL3) affects lipid metabolism by inhibiting the activity of lipoprotein and endothelial lipases. Angptl3 knockout mice have marked hypolipidemia, and heterozygous carriers of ANGPLT3, loss-of-function mutations were found among individuals in the lowest quartile of plasma triglycerides in population studies. Recently, 4 related individuals with primar...
متن کاملPrevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.
OBJECTIVE Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects ...
متن کاملRecent developments in the genetics of LDL deficiency.
PURPOSE OF REVIEW Inherited diseases of lipoprotein metabolism may give rise to marked hypocholesterolemia with low or absent levels of LDL, depending on the gene involved and mode of inheritance of the condition, together with the severity of the mutation or mutations present. In this review, we discuss the recent developments in the genetics of LDL deficiency. RECENT FINDINGS Carriers of a ...
متن کاملFrequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.
amilial combined hyperlipidemia (FCH) is the most comon genetic cause of hyperlipidemia, affecting approxiately 1% of the population. It was first described in the eattle Myocardial Infarction Study in 1973 (1). This ondition is characterized by variable lipid phenotypes increased levels of triglycerides or cholesterol or both lipids) n the proband and in relatives that may vary within an ndivi...
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ژورنال
عنوان ژورنال: Clinical Lipidology
سال: 2013
ISSN: 1758-4299
DOI: 10.2217/clp.12.92