Familial hyperlipidemia type 5 (Homo sapiens)

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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.

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Bibliography

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  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

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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

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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

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