Familial hyperlipidemia type 5 (Homo sapiens)

From WikiPathways

Jump to: navigation, search
77877VLDL increaseChylomicron increaseHyperlipoproteinemia type VFamilial hyperlipidemiaType V7775, 151111111xLiverTransportChylomicronChylomicron remnantSEL1L25, 9, 152, 13, 149622, 10, 12, 1394, 794, 6954, 7VLDLAPOA2CholesterolHDLLDLLRP1APOA4LipoproteinIDL8CETPLIPCAPOA1LCATLDLRPLTPCholesterolLPLLMF1GPIHBP1GPIHBP1LPLAPOC2APOA5CETPBindingConversionGene/proteinMetaboliteCatalysisStimulationMutationsLegendx9CETP95, 9, 15Triglyceride5, 9, 15PhospholipidLPLAPOC2APOA5HDL8


Description

Familial hyperlipidemias are classified according to the Fredrickson classification. Type V familial hyperlipidemia is also known as combined hyperlipidemia as it look like a combination of type I and type IV. In type V familial hyperlipidemia there is an increase in both chylomicrons and VLDL. Both of the lipoproteins are hydrolyzed by LPL. However, this is mainly caused by mutations in APOA5. APOA5 plays a role in stablizing the APOC2-LPL complex, which is needed to hydrolize VLDL and chylomicrons. Mutations in APOA5 would therefore lead to instability of this complex and less hydrolysis. Some cases have also shown a decrease in LPL itself, which was mostly linked to the VLDL increase.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. 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
  2. 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
  3. Burnett JR, Hooper AJ, Hegele RA; ''Familial Lipoprotein Lipase Deficiency''; , 1993 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. 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
  6. 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
  7. 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
  8. Nagasaka H, Kikuta H, Chiba H, Murano T, Harashima H, Ohtake A, Senzaki H, Sasaki N, Inoue I, Katayama S, Shirai K, Kobayashi K; ''Two cases with transient lipoprotein lipase (LPL) activity impairment: evidence for the possible involvement of an LPL inhibitor.''; Eur J Pediatr, 2003 PubMed Europe PMC Scholia
  9. Feingold KR; ''Introduction to Lipids and Lipoproteins''; , 2000 PubMed Europe PMC Scholia
  10. 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
  11. Huang A, Sun D; ''Sexually Dimorphic Regulation of EET Synthesis and Metabolism: Roles of Estrogen.''; Front Pharmacol, 2018 PubMed Europe PMC Scholia
  12. 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
  13. 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
  14. 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
  15. Goldberg AS, Hegele RA; ''Cholesteryl ester transfer protein inhibitors for dyslipidemia: focus on dalcetrapib.''; Drug Des Devel Ther, 2012 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
119153view11:02, 18 June 2021UlasBabayigitCorrected arrows into graphical lines and corrected transport arrows
119152view11:01, 18 June 2021UlasBabayigitCorrected arrows into graphical lines and corrected transport arrows
118703view07:34, 1 June 2021UlasBabayigitOntology Term : 'hyperlipoproteinemia type V' added !
118701view07:33, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118500view09:12, 28 May 2021UlasBabayigitOntology Term : 'familial hyperlipidemia' added !
118499view09:11, 28 May 2021UlasBabayigitOntology Term : 'DOID:13809' removed !
118496view09:10, 28 May 2021UlasBabayigitOntology Term : 'familial combined hyperlipidemia' added !
118495view09:08, 28 May 2021UlasBabayigitNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
APOA1GeneProductENSG00000118137 (Ensembl)
APOA2GeneProductENSG00000158874 (Ensembl)
APOA4GeneProductENSG00000110244 (Ensembl)
APOA5GeneProductENSG00000110243 (Ensembl)
APOC2GeneProductENSG00000234906 (Ensembl)
CETPGeneProductENSG00000087237 (Ensembl)
CholesterolMetaboliteCHEBI:16113 (ChEBI)
Chylomicron MetaboliteQ423126 (Wikidata)
Chylomicron remnant MetaboliteQ14890553 (Wikidata)
Familial hyperlipidemiaQ18554145 (Wikidata)
GPIHBP1GeneProductENSG00000277494 (Ensembl)
HDLMetaboliteCHEBI:47775 (ChEBI)
Hyperlipoproteinemia type VQ18554151 (Wikidata)
IDLMetaboliteCHEBI:132933 (ChEBI)
LCATGeneProductENSG00000213398 (Ensembl)
LDLMetaboliteCHEBI:47774 (ChEBI)
LDLRGeneProductENSG00000130164 (Ensembl)
LIPCGeneProductENSG00000166035 (Ensembl)
LMF1GeneProductENSG00000103227 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
LRP1GeneProductENSG00000123384 (Ensembl)
LipoproteinMetaboliteCHEBI:6495 (ChEBI)
PLTPGeneProductENSG00000100979 (Ensembl)
PhospholipidMetaboliteCHEBI:16247 (ChEBI)
SEL1LGeneProductENSG00000071537 (Ensembl)
TriglycerideMetaboliteCHEBI:17855 (ChEBI)
VLDLMetaboliteCHEBI:39027 (ChEBI)

Annotated Interactions

No annotated interactions

Personal tools