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 primary hypolipidemia were found to be compound heterozygotes for ANGPTL3 loss-of-function mutations. We resequenced ANGPTL3 in 4 members of 3 kindreds originally identified for very low levels of low-density lipoprotein cholesterol and high-density lipoprotein cholesterol (0.97±0.16 and 0.56±0.20 mmol/L, respectively) in whom no mutations of known candidate genes for monogenic hypobetalipoproteinemia and hypoalphalipoproteinemia had been detected. These subjects were found to be homozygous or compound heterozygous for ANGPTL3 loss-of-function mutations (p.G400VfsX5, p.I19LfsX22/p.N147X) associated with the absence of ANGPTL3 in plasma. They had reduced plasma levels of triglyceride-containing lipoproteins and of HDL particles that contained only apolipoprotein A-I and pre-β-high-density lipoprotein. In addition, their apolipoprotein B-depleted sera had a reduced capacity to promote cell cholesterol efflux through the various pathways (ABCA1-, SR-BI-, and ABCG1-mediated efflux); however, these subjects had no clinical evidence of accelerated atherosclerosis. Heterozygous carriers of the ANGPTL3 mutations had low plasma ANGPTL3 and moderately reduced low-density lipoprotein cholesterol (2.52±0.38 mmol/L) but normal plasma high-density lipoprotein cholesterol. Complete ANGPTL3 deficiency caused by loss-of-function mutations of ANGPTL3 is associated with a recessive hypolipidemia characterized by a reduction of apolipoprotein B and apolipoprotein A-I-containing lipoproteins, changes in subclasses of high-density lipoprotein, and reduced cholesterol efflux potential of serum. Partial ANGPTL3 deficiency is associated only with a moderate reduction of low-density lipoprotein.
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 primary hypolipidemia were found to be compound heterozygotes for ANGPTL3 loss - of - function mutations . We resequenced ANGPTL3 in 4 members of 3 kindreds originally identified for very low levels of low - density lipoprotein cholesterol and high - density lipoprotein cholesterol ( 0.97±0.16 and 0.56±0.20 mmol / L , respectively ) in whom no mutations of known candidate genes for monogenic hypobetalipoproteinemia and hypoalphalipoproteinemia had been detected . These subjects were found to be homozygous or compound heterozygous for ANGPTL3 loss - of - function mutations ( p . G400VfsX5 , p . I19LfsX22/p . N147X ) associated with the absence of ANGPTL3 in plasma . They had reduced plasma levels of triglyceride - containing lipoproteins and of HDL particles that contained only apolipoprotein A - I and pre - β - high - density lipoprotein . In addition , their apolipoprotein B - depleted sera had a reduced capacity to promote cell cholesterol efflux through the various pathways ( ABCA1- , SR - BI- , and ABCG1-mediated efflux ) ; however , these subjects had no clinical evidence of accelerated atherosclerosis . Heterozygous carriers of the ANGPTL3 mutations had low plasma ANGPTL3 and moderately reduced low - density lipoprotein cholesterol ( 2.52±0.38 mmol / L ) but normal plasma high - density lipoprotein cholesterol . Complete ANGPTL3 deficiency caused by loss - of - function mutations of ANGPTL3 is associated with a recessive hypolipidemia characterized by a reduction of apolipoprotein B and apolipoprotein A - I - containing lipoproteins , changes in subclasses of high - density lipoprotein , and reduced cholesterol efflux potential of serum . Partial ANGPTL3 deficiency is associated only with a moderate reduction of low - density lipoprotein .
What is the results of inactivated ANGPLT3?
What is the results of inactivated ANGPLT3 ?
Recessive hypolipidemia
Recessive hypolipidemia