Familial hyperlipidemia type 3 (Homo sapiens)

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925149, 209PlasmaLiverVLDLR293, 22196, 8, 292226294, 8, 29, 325, 2222251, 19, 262225, 26221114VLDLAPOA2CholesterolHDLLDLFamilial dysbetalipoproteinemiaAPOA4Familial hyperlipidemiaLipoproteinIDL20, 27Type IIIAPOECETPLIPCAPOA1SCARB1LCATLPLLDLRPLTPxTransportBindingConversionGene / proteinMetaboliteCatalysisStimulationMutationsLegendxCETP3, 22LRP12222CETP3, 223, 22CholesterolTriglyceridePhospholipid9, 20


Description

Familial hyperlipidemias are classified according to the Fredrickson classification. Type III is also known is familial dysbetalipoproteinemia. It is mainly linked to an increase of IDL. This is caused by APOE. APOE has multiple types, and is part of LDL, IDL, VLDL and chylomicrons. APOE also binds to LDLR, which is required for normal catabolism of triglycerid-rich proteins. Specifically APOE2 is linked with to IDL and because of this, mutations in APOE2 will lead to dysbetalipoproteinemia.

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Bibliography

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  1. Dose J, Huebbe P, Nebel A, Rimbach G; ''APOE genotype and stress response - a mini review.''; Lipids Health Dis, 2016 PubMed Europe PMC Scholia
  2. 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
  3. 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
  4. Go GW, Mani A; ''Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.''; Yale J Biol Med, 2012 PubMed Europe PMC Scholia
  5. 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
  6. 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
  7. Feingold KR; ''Introduction to Lipids and Lipoproteins''; , 2000 PubMed Europe PMC Scholia
  8. 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
  9. 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
  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 bystimulating fluid-phase endocytosis.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2020 PubMed Europe PMC Scholia
  11. Shin KC, Hwang I, Choe SS, Park J, Ji Y, Kim JI, Lee GY, Choi SH, Ching J, Kovalik JP, Kim JB; ''Macrophage VLDLR mediates obesity-induced insulin resistance with adipose tissue inflammation.''; Nat Commun, 2017 PubMed Europe PMC Scholia
  12. 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
  13. 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
  14. 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
  15. Go GW, Mani A; ''Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.''; Yale J Biol Med, 2012 PubMed Europe PMC Scholia
  16. 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
  17. Huang A, Sun D; ''Sexually Dimorphic Regulation of EET Synthesis and Metabolism: Roles of Estrogen.''; Front Pharmacol, 2018 PubMed Europe PMC Scholia
  18. 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
  19. 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
  20. Burnett JR, Hooper AJ, Hegele RA; ''Familial Lipoprotein Lipase Deficiency''; , 1993 PubMed Europe PMC Scholia
  21. 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
  22. Koopal C, Marais AD, Visseren FL; ''Familial dysbetalipoproteinemia: an underdiagnosed lipid disorder.''; Curr Opin Endocrinol Diabetes Obes, 2017 PubMed Europe PMC Scholia
  23. 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
  24. 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
  25. Goldberg AS, Hegele RA; ''Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib.''; Drug Des Devel Ther, 2012 PubMed Europe PMC Scholia
  26. 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
  27. Phillips MC; ''Apolipoprotein E isoforms and lipoprotein metabolism.''; IUBMB Life, 2014 PubMed Europe PMC Scholia
  28. Goldberg AS, Hegele RA; ''Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib.''; Drug Des Devel Ther, 2012 PubMed Europe PMC Scholia
  29. 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
  30. 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
  31. 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
  32. 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

History

View all...
CompareRevisionActionTimeUserComment
134184view10:24, 16 July 2024EweitzOntology Term : 'hepatocyte' added !
134183view10:23, 16 July 2024EweitzColor disease nodes
134182view10:16, 16 July 2024EweitzSpecify: "Liver" -> "Liver cell"
134181view10:13, 16 July 2024EweitzTry aligning dash phases
134180view10:06, 16 July 2024EweitzRefine legend, economize layout
120392view08:44, 30 November 2021Fehrhartsmall graphical change
119150view10:55, 18 June 2021UlasBabayigitCorrected transport arrows
118699view07:32, 1 June 2021UlasBabayigitOntology Term : 'hyperlipoproteinemia type III' added !
118698view07:32, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118502view09:13, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118490view08:44, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOEGeneProductENSG00000130203 (Ensembl)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
Familial dysbetalipoproteinemiaQ2069207 (Wikidata)
Familial hyperlipidemiaQ18554145 (Wikidata)
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)
SCARB1GeneProductENSG00000073060 (Ensembl)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)
VLDLRGeneProductENSG00000147852 (Ensembl)

Annotated Interactions

No annotated interactions

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