|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes.
|
30948399 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder with loss of function mutations of lipoprotein lipase resulting in hypertriglyceridemia and accumulation of chylomicrons in plasma, often leading to acute pancreatitis.
|
29804909 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
It may result from 1 of 3 conditions: the presence of secondary forms of hypertriglyceridemia concurrent with genetic causes of hypertriglyceridemia, termed multifactorial chylomicronemia syndrome (MFCS); a deficiency in the enzyme lipoprotein lipase and some associated proteins, termed familial chylomicronemia syndrome (FCS); or familial partial lipodystrophy.
|
31035285 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
Lipoprotein lipase (LPL) hydrolyzes triglycerides in lipoprotein to supply fatty acids, and its deficiency leads to hypertriglyceridemia, thereby inducing metabolic syndrome (MetSyn).
|
31234537 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Gene-centric analysis revealed burden of variants for increasing HTG risk in GCKR (p = 2.1x10-5), LPL (p = 1.6x10-3) and MLXIPL (p = 1.6x10-2) genes.
|
31369557 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Loss-of-function mutations in <i>LPL</i> or <i>GPIHBP1</i> cause severe hypertriglyceridemia (chylomicronemia), but structures for LPL and GPIHBP1 have remained elusive.
|
30559189 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Previous studies have demonstrated that mutations in lipoprotein lipase (LPL), apolipoprotein CII (APOC2), apolipoprotein AV (APOA5), glycosylphosphatidylinositol anchored high-density lipoprotein-binding protein 1 (GPIHBP1), lipase maturation factor 1(LMF1), and glycerol-3 phosphate dehydrogenase 1 (GPD1) are responsible for HTG by using genomic microarrays and next-generation sequencing.
|
29910226 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
One approach for treating hypertriglyceridemia may be to increase the amount of enzymatically active LPL by preventing its inhibition by angiopoietin-like protein 4 (ANGPTL4).
|
30591589 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
These efforts uncovered a central role for LPL in plasma triglyceride metabolism and identified LPL mutations as a cause of hypertriglyceridemia.
|
31269429 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
The reduced expression of GPIHBP1 was insufficient to prevent LPL from reaching the capillary lumen, and it did not lead to hypertriglyceridemia-even when mice were fed a high-fat diet.
|
30598475 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
Among the 238 patients registered with severe hypertriglyceridemia (fasting triglycerides >1000 mg/dL), 26 were diagnosed with FCS as they had confirmed postheparin plasma LPL activity deficiency and/or homozygosity for loss-of-function mutations in LPL, GPIHBP1, APOC2, LMF1, or Apolipoprotein A5 (APOA5).
|
30150141 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
The inhibition of lipoprotein lipase (LPL), the increased assembly and secretion of very low-density lipoproteins (VLDL) and the decreased reuptake of triglyceride-rich lipoproteins (TRLs) by the liver are mechanisms associating elevated serum ApoCIII levels and hypertriglyceridemia.
|
30557902 |
2019 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Autoantibodies against GPIHBP1, the endothelial cell transporter for lipoprotein lipase (LPL), cause severe hypertriglyceridemia ("GPIHBP1 autoantibody syndrome").
|
30287259 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
ACCi-mediated hypertriglyceridemia could be attributed to approximately a 15% increase in hepatic very low-density lipoprotein production and approximately a 20% reduction in triglyceride clearance by lipoprotein lipase (P ≤ 0.05).
|
29790582 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
AlteredExpression
|
phenotype |
BEFREE |
GPIHBP1 deficiency prevents LPL from reaching the capillary lumen, resulting in low intravascular LPL levels, impaired intravascular triglyceride processing, and severe hypertriglyceridemia (chylomicronemia).
|
28666713 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.
|
29921298 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Angiopoietin-like protein 8(ANGPTL8) and apolipoprotein CIII (apoCIII) were found to inhibit the activity of lipoprotein lipase (LPL) and disrupt the clearance of triglyceride-rich lipoproteins (TRLs), leading to hypertriglyceridemia.
|
30021607 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
In the absence of GPIHBP1, LPL remains mislocalized within the subendothelial spaces, causing severe hypertriglyceridemia (chylomicronemia).
|
29899144 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Clinical and functional studies of two novel variants in the LPL gene in subjects with severe hypertriglyceridemia.
|
30179614 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
A total of 3 individuals with severe hypertriglyceridemia and recurrent pancreatitis were selected from the Lipid Clinic at Sahlgrenska University Hospital and LPL was sequenced.
|
29288010 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
PosttranslationalModification
|
phenotype |
BEFREE |
We demonstrate that LPL methylation may be influenced by the degree of metabolic disturbances and could be involved in triglyceride metabolism, promoting hypertriglyceridemia and subsequent associated disorders, such as MetS.
|
29046332 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
We characterized blood and tissue leukocytes and inflammatory molecules in transgenic LpL knockout mice rescued from lethal hypertriglyceridemia within 18 hours of life by muscle-specific LpL expression (MCKL0 mice).
|
29371243 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
Three children with severe HyperTG were found to be compound heterozygous for rare pathogenic LPL variants (2 nonsense, 3 missense, and 1 splicing variant).
|
28951076 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
GeneticVariation
|
phenotype |
BEFREE |
We identified a rare mutation in the LPL gene causing severe hypertriglyceridemia: a nucleotide substitution (c.836T>G) resulting in a leucine to arginine substitution at position 279 of the protein (p.Leu279Arg).The pathogenicity of the variant was predicted by in silico analysis using PolyPhen2 and SIFT prediction programs, which indicated that mutation p.Leu279Arg is probably harmful.
|
29479812 |
2018 |
|
Hypertriglyceridemia
|
0.600 |
Biomarker
|
phenotype |
BEFREE |
In <i>Gpihbp1</i><sup>-/-</sup> mice, LPL remains stranded in the subendothelial spaces, causing hypertriglyceridemia, but how <i>Gpihbp1</i><sup>-/-</sup> mice respond to metabolic stress (e.g., cold exposure) has never been studied.
|
29449313 |
2018 |