Familial hyperlipidemia type 1 (WP5108)

Homo sapiens

Familial hyperlipidemias are classified according to the Fredrickson classification. Type 1 of this classification is linked to a decrease of LPL, either through mutations on the gene itself or because of other factors. LPL hydrolyzed triglycerides in chylomicrons and in very low-density lipoproteins. Type 1 familial hyperlipidemia shows an increase of chylomicrons. LPL normally hydrolizes these chylomicrons into chylomicron remnants. However, mutations in LPL have been shown to be the cause of the first form of type 1 hyperlipidemia. In tissue, LMF1 causes proper folding and assembly of LPL, which is stabalized by Sel1L. LPL is then transported to the endothelial cell surface of the capillary lumen, where it binds to GPIHBP1. APOC2 is essential for LPL activation, which is stabalized by APOA5. Studies have found another form of LPL activity, but with an increased amount of LPL inhibitors. These inhibitors are ANGPTL3,4 and 8. Which of these are inhibiting LPL depends on the tissue the LPL is in.

Authors

Ulas Babayigit , Friederike Ehrhart , and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

familial GPIHBP1 deficiency familial lipase maturation factor 1 deficiency familial lipoprotein lipase deficiency familial hyperlipidemia familial apolipoprotein C-II deficiency familial chylomicronemia due to inhibition of lipoprotein lipase activity familial chylomicronemia syndrome

Pathway Ontology

disease pathway

Cell Type Ontology

hepatocyte

Participants

Label Type Compact URI Comment
Chylomicron Metabolite wikidata:Q423126
Chylomicron remnant Metabolite wikidata:Q14890553
VLDL Metabolite chebi:39027
Cholesterol Metabolite chebi:16113
HDL Metabolite chebi:47775
LDL Metabolite chebi:47774
Lipoprotein Metabolite chebi:6495
IDL Metabolite chebi:132933
Triglyceride Metabolite chebi:17855
Phospholipid Metabolite chebi:16247
ANGPTL8 GeneProduct ensembl:ENSG00000130173
ANGPTL4 GeneProduct ensembl:ENSG00000167772
APOA2 GeneProduct ensembl:ENSG00000158874
LRP1 GeneProduct ensembl:ENSG00000123384
APOA4 GeneProduct ensembl:ENSG00000110244
CETP GeneProduct ensembl:ENSG00000087237
LIPC GeneProduct ensembl:ENSG00000166035
APOA1 GeneProduct ensembl:ENSG00000118137
LCAT GeneProduct ensembl:ENSG00000213398
LDLR GeneProduct ensembl:ENSG00000130164
PLTP GeneProduct ensembl:ENSG00000100979
GPIHBP1 GeneProduct ensembl:ENSG00000277494
LPL GeneProduct ensembl:ENSG00000175445
ANGPTL3 GeneProduct ensembl:ENSG00000132855
APOC2 GeneProduct ensembl:ENSG00000234906
APOA5 GeneProduct ensembl:ENSG00000110243
SEL1L GeneProduct ensembl:ENSG00000071537
LMF1 GeneProduct ensembl:ENSG00000103227

References

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