Familial hyperlipidemia type 1 (Homo sapiens)

From WikiPathways

Revision as of 08:00, 28 May 2021 by UlasBabayigit (Talk | contribs)
Jump to: navigation, search
7, 8151115151511xTransportLiverANGPTL4ANGPTL8Chylomicron remnantChylomicron177, 8, 1012, 14, 17105174, 6, 14, 17103, 15103, 51083Familial lipoprotein lipase deficiencyVLDLAPOA2CholesterolHDLLDLFamilial apolipoprotein C-II deficiencyLRP1APOA4Familial chylomicronemia due to inhibition of lipoprotein lipase activityFamilial hyperlipidemiaLipoproteinIDL221, 11Type ICETPLIPCAPOA1LCATLDLRPLTPCholesterolGPIHBP1LPLANGPTL3APOC2APOA5CETPBindingInhibitionConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendx10CETP107, 8, 107, 8, 10TriglyceridePhospholipidLPL15


Description

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. APOC2 is an essential cofactor 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.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Feingold KR; ''Introduction to Lipids and Lipoproteins''; , 2000 PubMed Europe PMC Scholia
  2. Todur SP, Ashavaid TF; ''Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study.''; Indian J Clin Biochem, 2013 PubMed Europe PMC Scholia
  3. Liu M, Mei X, Herscovitz H, Atkinson D; ''N-terminal mutation of apoA-I and interaction with ABCA1 reveal mechanisms of nascent HDL biogenesis.''; J Lipid Res, 2019 PubMed Europe PMC Scholia
  4. Huang A, Sun D; ''Sexually Dimorphic Regulation of EET Synthesis and Metabolism: Roles of Estrogen.''; Front Pharmacol, 2018 PubMed Europe PMC Scholia
  5. Ayhan H, Gormus U, Isbir S, Yilmaz SG, Isbir T; ''SCARB1Gene Polymorphisms and HDL Subfractions in Coronary Artery Disease.''; In Vivo, 2017 PubMed Europe PMC Scholia
  6. Chait A, Ginsberg HN, Vaisar T, Heinecke JW, Goldberg IJ, Bornfeldt KE; ''Remnants of the Triglyceride-Rich Lipoproteins, Diabetes, and Cardiovascular Disease.''; Diabetes, 2020 PubMed Europe PMC Scholia
  7. Gaudet D, Brisson D, Tremblay K, Alexander VJ, Singleton W, Hughes SG, Geary RS, Baker BF, Graham MJ, Crooke RM, Witztum JL; ''Targeting APOC3 in the familial chylomicronemia syndrome.''; N Engl J Med, 2014 PubMed Europe PMC Scholia
  8. Burnett JR, Hooper AJ, Hegele RA; ''Familial Lipoprotein Lipase Deficiency''; , 1993 PubMed Europe PMC Scholia
  9. Go GW, Mani A; ''Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.''; Yale J Biol Med, 2012 PubMed Europe PMC Scholia
  10. Lucero D, Islam P, Freeman LA, Jin X, Pryor M, Tang J, Kruth HS, Remaley AT; ''Interleukin 10 promotes macrophage uptake of HDL and LDL by stimulating fluid-phase endocytosis.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2020 PubMed Europe PMC Scholia
  11. Rhainds D, Brissette L; ''The role of scavenger receptor class B type I (SR-BI) in lipid trafficking. defining the rules for lipid traders.''; Int J Biochem Cell Biol, 2004 PubMed Europe PMC Scholia
  12. Goldberg AS, Hegele RA; ''Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib.''; Drug Des Devel Ther, 2012 PubMed Europe PMC Scholia
  13. Obinata H, Kuo A, Wada Y, Swendeman S, Liu CH, Blaho VA, Nagumo R, Satoh K, Izumi T, Hla T; ''Identification of ApoA4 as a sphingosine 1-phosphate chaperone in ApoM- and albumin-deficient mice.''; J Lipid Res, 2019 PubMed Europe PMC Scholia
  14. Wolska A, Dunbar RL, Freeman LA, Ueda M, Amar MJ, Sviridov DO, Remaley AT; ''Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.''; Atherosclerosis, 2017 PubMed Europe PMC Scholia
  15. Tosheska Trajkovska K, Topuzovska S; ''High-density lipoprotein metabolism and reverse cholesterol transport: strategies for raising HDL cholesterol.''; Anatol J Cardiol, 2017 PubMed Europe PMC Scholia
  16. Boughanem H, Bandera-Merchán B, Hernández-Alonso P, Moreno-Morales N, Tinahones FJ, Lozano J, Morcillo S, Macias-Gonzalez M; ''Association between theAPOA2rs3813627 Single Nucleotide Polymorphism and HDL and APOA1 Levels Through BMI.''; Biomedicines, 2020 PubMed Europe PMC Scholia
  17. Geller AS, Polisecki EY, Diffenderfer MR, Asztalos BF, Karathanasis SK, Hegele RA, Schaefer EJ; ''Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.''; J Lipid Res, 2018 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134580view23:45, 22 July 2024EweitzOntology Term : 'hepatocyte' added !
120390view08:39, 30 November 2021Fehrhartsmall layout change
119145view10:45, 18 June 2021UlasBabayigitAdded comment to transport arrows
119144view10:33, 18 June 2021UlasBabayigitCorrected arrows into craphical lines.
118728view10:17, 1 June 2021UlasBabayigitAdded references at LMF1 and GPIHBP1
118727view10:15, 1 June 2021UlasBabayigitOntology Term : 'familial GPIHBP1 deficiency' added !
118726view10:14, 1 June 2021UlasBabayigitOntology Term : 'familial lipase maturation factor 1 deficiency' added !
118725view10:03, 1 June 2021UlasBabayigitModified description
118724view09:57, 1 June 2021UlasBabayigitAdded LMF1 and GPIHBP1 deficiency and changed mutation of inhibitors of LPL.
118697view07:31, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118695view07:29, 1 June 2021UlasBabayigitOntology Term : 'familial lipoprotein lipase deficiency' added !
118504view09:14, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118486view08:01, 28 May 2021UlasBabayigitOntology Term : 'familial chylomicronemia syndrome' added !
118485view08:00, 28 May 2021UlasBabayigitOntology Term : 'familial apolipoprotein C-II deficiency' added !
118484view07:59, 28 May 2021UlasBabayigitOntology Term : 'familial chylomicronemia due to inhibition of lipoprotein lipase activity' added !
118483view07:58, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ANGPTL3GeneProductENSG00000132855 (Ensembl)
ANGPTL4GeneProductENSG00000167772 (Ensembl)
ANGPTL8GeneProductENSG00000130173 (Ensembl)
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOA5GeneProductENSG00000110243 (Ensembl)
APOC2GeneProductENSG00000234906 (Ensembl)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
Chylomicron MetaboliteQ423126 (Wikidata)
Chylomicron remnant MetaboliteQ14890553 (Wikidata)
Familial apolipoprotein C-II deficiencyQ55998523 (Wikidata)
Familial chylomicronemia

due to inhibition of lipoprotein lipase

activity		Q102293256 (Wikidata)
Familial hyperlipidemiaQ18554145 (Wikidata)
Familial lipoprotein lipase deficiencyQ2349695 (Wikidata)
GPIHBP1GeneProductENSG00000277494 (Ensembl)
HDLMetaboliteCHEBI:47775 (ChEBI)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LRP1GeneProductENSG00000123384 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5108"
Personal tools