Familial hyperlipidemia type 4 (Homo sapiens)

From WikiPathways

Revision as of 09:13, 28 May 2021 by UlasBabayigit (Talk | contribs)
Jump to: navigation, search
41448, 17411841FASMalonyl-CoAGCKRGlucokinaseDGAT2Familial hypertriglyceridemiaFamilial hyperlipidemia8, 17Type IV514141414141414LiverSEL1L115, 12, 206, 11, 152013113, 6, 11, 22207207, 1320127VLDLAPOA2CholesterolHDLLDLLRP1APOA4LipoproteinIDLCETPLIPCAPOA1LCATLDLRPLTPLPLLMF1GPIHBP1GPIHBP1LPLAPOC2APOA5CETP1220CETP205, 12, 205, 12, 20Fatty acidAcyl-CoA4Acyl-CoA synthetaseTriglyceridePDIA2MTTPTriglyceride18xTransportBindingInhibitionConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendxCholesterolTriglyceridePhospholipid


Description

Familial hyperlipidemias are classified according to the Fredrickson classification. Type IV familial hyperlipidemia is also known as familial hypertriglyceridemia. Typ IV is mostly linked to in increased VLDL within the blood. This is from both an increased production as well as a decreased elimination of VLDL.

The increased production is caused by mutations of GCKR. This gene inhibits glucokinase, which would lead to less triglycerides produced in the liver. These triglycerides would then increase the amount of VLDL in the blood. Mutations in GCKR would therefore lead to increased VLDL.

A decreased elimination is caused by APOA5. APOA5 plays a role in the hydrolysis of VDLD by LPL. Mutations in this gene would therefore lead to a decrease of this hydrolysis.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Burnett JR, Hooper AJ, Hegele RA; ''Familial Lipoprotein Lipase Deficiency''; , 1993 PubMed Europe PMC Scholia
  2. 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
  3. 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
  4. 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
  5. Stefanutti C; ''Lomitapide-a Microsomal Triglyceride Transfer Protein Inhibitor for Homozygous Familial Hypercholesterolemia.''; Curr Atheroscler Rep, 2020 PubMed Europe PMC Scholia
  6. 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
  7. 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
  8. 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
  9. 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
  10. Jeong YS, Kim D, Lee YS, Kim HJ, Han JY, Im SS, Chong HK, Kwon JK, Cho YH, Kim WK, Osborne TF, Horton JD, Jun HS, Ahn YH, Ahn SM, Cha JY; ''Integrated expression profiling and genome-wide analysis of ChREBP targets reveals the dual role for ChREBP in glucose-regulated gene expression.''; PLoS One, 2011 PubMed Europe PMC Scholia
  11. Huang A, Sun D; ''Sexually Dimorphic Regulation of EET Synthesis and Metabolism: Roles of Estrogen.''; Front Pharmacol, 2018 PubMed Europe PMC Scholia
  12. Johansen CT, Wang J, Lanktree MB, Cao H, McIntyre AD, Ban MR, Martins RA, Kennedy BA, Hassell RG, Visser ME, Schwartz SM, Voight BF, Elosua R, Salomaa V, O'Donnell CJ, Dallinga-Thie GM, Anand SS, Yusuf S, Huff MW, Kathiresan S, Hegele RA; ''Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.''; Nat Genet, 2010 PubMed Europe PMC Scholia
  13. Go GW, Mani A; ''Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.''; Yale J Biol Med, 2012 PubMed Europe PMC Scholia
  14. Feingold KR; ''Introduction to Lipids and Lipoproteins''; , 2000 PubMed Europe PMC Scholia
  15. 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
  16. 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
  17. Goldberg AS, Hegele RA; ''Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib.''; Drug Des Devel Ther, 2012 PubMed Europe PMC Scholia
  18. Valenti L, Alisi A, Nobili V; ''Unraveling the genetics of fatty liver in obese children: additive effect of P446L GCKR and I148M PNPLA3 polymorphisms.''; Hepatology, 2012 PubMed Europe PMC Scholia
  19. Pillois X, Gautier T, Bouillet B, Pais de Barros JP, Jeannin A, Vergès B, Bonnet J, Lagrost L; ''Constitutive inhibition of plasma CETP by apolipoprotein C1 is blunted indyslipidemic patients with coronary artery disease.''; J Lipid Res, 2012 PubMed Europe PMC Scholia
  20. 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
  21. Chait A, Subramanian S; ''Hypertriglyceridemia: Pathophysiology, Role of Genetics, Consequences, and Treatment''; , 2000 PubMed Europe PMC Scholia
  22. 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
134578view23:42, 22 July 2024EweitzOntology Term : 'hepatocyte' added !
134577view23:41, 22 July 2024EweitzRefine legend
119173view06:42, 20 June 2021EgonwNot a mim-conversion
119151view10:57, 18 June 2021UlasBabayigitCorrected arrows into graphical lines and corrected transport arrows
118702view07:34, 1 June 2021UlasBabayigitOntology Term : 'hyperlipoproteinemia type IV' added !
118700view07:33, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118501view09:13, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118494view09:00, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOA5GeneProductENSG00000110243 (Ensembl)
APOC2GeneProductENSG00000234906 (Ensembl)
Acyl-CoA synthetaseProteinENSG00000154930 (Ensembl)
Acyl-CoAMetaboliteCHEBI:15522 (ChEBI)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
DGAT2GeneProductENSG00000062282 (Ensembl)
FASGeneProductENSG00000026103 (Ensembl)
Familial hyperlipidemiaQ18554145 (Wikidata)
Familial hypertriglyceridemiaQ5432941 (Wikidata)
Fatty acidMetaboliteCHEBI:35366 (ChEBI)
GCKRGeneProductENSG00000084734 (Ensembl)
GPIHBP1GeneProductENSG00000277494 (Ensembl)
GlucokinaseProteinP35557 (Uniprot-TrEMBL)
HDLMetaboliteCHEBI:47775 (ChEBI)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LMF1GeneProductENSG00000103227 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LRP1GeneProductENSG00000123384 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
MTTPGeneProductENSG00000138823 (Ensembl)
Malonyl-CoAMetaboliteCHEBI:15531 (ChEBI)
PDIA2GeneProductENSG00000185615 (Ensembl)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
SEL1LGeneProductENSG00000071537 (Ensembl)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5111"
Personal tools