Familial partial lipodystrophy (FPLD) (Homo sapiens)

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1, 684, 173, 5104, 16114111, 1441483, 51873, 5844, 169123, 513, 5113, 151xIncreased lipid storageReduced lipolysisAdipogenesisAdipocyte survivalDNA replicationRNA transcriptionCell cycle regulationMehcanical supportetc.MonoacylglycerolMGLLBANF1FPLD type 4FPLD type 5FABP4LPLKLF9FPLD type 3GATA2FarnesylFamilial Parital Lipodystrophy(FPLD)CEBPAFPLD type 2PRRX1SREBF1KLF5FPLD type 6PNPLA2DiacylglycerolKLF2STAT5BAKT2GATA3LMNB1FPLD type 1LMNB24, 123, 54, 124, 121324, 124, 124, 12FA and GlycerolCIDEAPPARGPPARAUnkown geneMAPK9PI3KCIDECPLIN1InsulinLIPE10124, 12Nuclear Laminanon-matured Lamin APrelamin-A/CPrelamin-A/CZMPSTE24CAAXFarnesylFNTAFarnesyl-L-cysteineICMTLMNAPrelamin-A/CCAAXPrelamin-A/CFarnesyl-L-cysteineZMPSTE24MFarnesyl-L-cysteineM1Triacylglycerol1Lamin ALamin ALamin B2Lamin B1BindingInhibitionConversionGene/proteinMetaboliteTranscriptionCatalysisStimulationMethylatioinMMutationsLegendDiseaseCleavingxx


Description

Familial partial lipodystrophy (FPLD) is divided into six subtypes of the disease. It is not known yet which gene is mutated to cause FPLD type 1. Type 2 is caused by mutations in lamin A, which can be either through LMNA mutations or ZMPSTE24 mutations. Type 3 has been shown to be linked to PPARG mutations. The LIPE gene causes triacylglycerol breakdown. Mutations in this gene lead more breakdown and causes type 6 FPLD. CIDEC inhibits LIPE. Mutations in CIDEC lead to type 5 FPLD. PLIN1 stimulates CIDEC and mutations in this leads to type 4 FPLD. The phenotype related to all types of FPLD, is a loss of adipose tissue in the limbs and some metabolic abnormalities. With FPLD type 1 there is a loss of subcutaneous fat from the limbs. Patients with type 2 have an increased muscularity and a loss of fat in the limbs. There is also an accumulation of fat in the face and neck. In type 3 there is a loss of adipose tissue in the distal part of the limbs. Type 4 patients have shown to have small adipocytes, macrophage infiltration and fibrosis of adipose tissue. In type 5, there are small compartments in lipid droplets. Lastly, type 6 FPLD shows an increased visceral fat, hepatosteatosis, insulin resistance, and diabetes. Some patients may show muscular dystrophy and elevated serum creatine phosphokinase

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Bibliography

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  1. Townsend LK, Knuth CM, Wright DC; ''Cycling our way to fit fat.''; Physiol Rep, 2017 PubMed Europe PMC Scholia
  2. Cox LS, Faragher RG; ''From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.''; Cell Mol Life Sci, 2007 PubMed Europe PMC Scholia
  3. Langhi C, Baldán �; ''CIDEC/FSP27 is regulated by peroxisome proliferator-activated receptor alpha and plays a critical role in fasting- and diet-induced hepatosteatosis.''; Hepatology, 2015 PubMed Europe PMC Scholia
  4. Jiao Y, Aisa Y, Liang X, Nuermaimaiti N, Gong X, Zhang Z, Guan Y; ''Regulation of PPARγ and CIDEC expression by adenovirus 36 in adipocyte differentiation.''; Mol Cell Biochem, 2017 PubMed Europe PMC Scholia
  5. Gao J, Liao J, Yang GY; ''CAAX-box protein, prenylation process and carcinogenesis.''; Am J Transl Res, 2009 PubMed Europe PMC Scholia
  6. Akinci B, Sahinoz M, Oral E; ''Lipodystrophy Syndromes: Presentation and Treatment''; , 2000 PubMed Europe PMC Scholia
  7. Fan M, Du X, Chen X, Bai H, Loor JJ, Shen T, Liang Y, Sun X, Xu Q, Song Y, Wang Z, Liu G, Yang L, Li X, Gao W; ''Inhibition of cell death inducing DNA fragmentation factor-α-like effector c (CIDEC) by tumor necrosis factor-α induces lipolysis and inflammation in calf adipocytes.''; J Dairy Sci, 2021 PubMed Europe PMC Scholia
  8. Enerbäck S, Ohlsson BG, Samuelsson L, Bjursell G; ''Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis.''; Mol Cell Biol, 1992 PubMed Europe PMC Scholia
  9. Dittmer TA, Misteli T; ''The lamin protein family.''; Genome Biol, 2011 PubMed Europe PMC Scholia
  10. Brey CW, Nelder MP, Hailemariam T, Gaugler R, Hashmi S; ''Krüppel-like family of transcription factors: an emerging new frontier in fat biology.''; Int J Biol Sci, 2009 PubMed Europe PMC Scholia
  11. Wu L, Zhou L, Chen C, Gong J, Xu L, Ye J, Li D, Li P; ''Cidea controls lipid droplet fusion and lipid storage in brown and white adipose tissue.''; Sci China Life Sci, 2014 PubMed Europe PMC Scholia
  12. ''''; , PubMed Europe PMC Scholia
  13. Broekema MF, Savage DB, Monajemi H, Kalkhoven E; ''Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2019 PubMed Europe PMC Scholia
  14. Slayton M, Gupta A, Balakrishnan B, Puri V; ''CIDE Proteins in Human Health and Disease.''; Cells, 2019 PubMed Europe PMC Scholia
  15. Greenberg AS, Coleman RA, Kraemer FB, McManaman JL, Obin MS, Puri V, Yan QW, Miyoshi H, Mashek DG; ''The role of lipid droplets in metabolic disease in rodents and humans.''; J Clin Invest, 2011 PubMed Europe PMC Scholia
  16. Gruenbaum Y, Goldman RD, Meyuhas R, Mills E, Margalit A, Fridkin A, Dayani Y, Prokocimer M, Enosh A; ''The nuclear lamina and its functions in the nucleus.''; Int Rev Cytol, 2003 PubMed Europe PMC Scholia
  17. Ito M, Nagasawa M, Omae N, Ide T, Akasaka Y, Murakami K; ''Differential regulation of CIDEA and CIDEC expression by insulin via Akt1/2- and JNK2-dependent pathways in human adipocytes.''; J Lipid Res, 2011 PubMed Europe PMC Scholia

History

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119174view08:06, 20 June 2021EgonwNot an mim-conversion
119171view06:33, 20 June 2021MaintBotNot mim-conversion's
119137view10:21, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119136view10:19, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119135view10:19, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119134view10:18, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119133view10:17, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119132view10:16, 18 June 2021UlasBabayigitCorrected arrows into graphical elements.
119126view09:41, 18 June 2021UlasBabayigittesting if i can update
118684view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 6' added !
118683view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 5' added !
118682view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 4' added !
118681view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 3' added !
118680view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 2' added !
118679view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 1' added !
118678view07:07, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
117970view11:01, 23 May 2021EweitzOntology Term : 'PW:0000001' removed !
117966view11:00, 23 May 2021EweitzModified title
117143view09:40, 18 May 2021UlasBabayigitRemoved incorrect farnesyl node
117137view09:28, 18 May 2021UlasBabayigitCorrected nodes, changed unkown gene into a graphcial element
117120view08:03, 18 May 2021UlasBabayigitModified description
117119view07:32, 18 May 2021UlasBabayigitFixed the cleaving of ZMPSTE24 and changed legend
117106view14:07, 17 May 2021UlasBabayigitOntology Term : 'Pathway Ontology' added !
117105view14:07, 17 May 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy' added !
117104view14:06, 17 May 2021UlasBabayigitOntology Term : 'Disease' added !
117088view06:40, 17 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AKT2ProteinENSG00000105221 (Ensembl)
BANF1GeneProductENSG00000175334 (Ensembl)
CAAXMetaboliteCHEBI:15356 (ChEBI)
CEBPAGeneProductENSG00000245848 (Ensembl)
CIDEAGeneProductENSG00000176194 (Ensembl)
CIDECGeneProductENSG00000187288 (Ensembl)
DiacylglycerolMetaboliteCHEBI:85682 (ChEBI)
FABP4GeneProductENSG00000170323 (Ensembl)
FNTAGeneProductENSG00000168522 (Ensembl)
FPLD type 1Q60195045 (Wikidata)
FPLD type 2Q60195039 (Wikidata)
FPLD type 3Q60195041 (Wikidata)
FPLD type 4Q60195043 (Wikidata)
FPLD type 5Q60195040 (Wikidata)
FPLD type 6Q60195044 (Wikidata)
Familial Parital Lipodystrophy (FPLD)Q5432945 (Wikidata)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (ChEBI)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (Uniprot-TrEMBL)
FarnesylProteinB3KVN2 (Uniprot-TrEMBL)
FarnesylMetaboliteCHEBI:86019 (ChEBI)
GATA2GeneProductENSG00000179348 (Ensembl)
GATA3GeneProductENSG00000107485 (Ensembl)
ICMTGeneProductENSG00000116237 (Ensembl)
InsulinProteinA6XGL2 (Uniprot-TrEMBL)
KLF2GeneProductENSG00000127528 (Ensembl)
KLF5GeneProductENSG00000102554 (Ensembl)
KLF9GeneProductENSG00000119138 (Ensembl)
LIPEGeneProductENSG00000079435 (Ensembl)
LMNAGeneProductENSG00000160789 (Ensembl)
LMNB1GeneProductENSG00000113368 (Ensembl)
LMNB2GeneProductENSG00000176619 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
Lamin AGeneProductENSG00000160789 (Ensembl)
Lamin B1GeneProductENSG00000113368 (Ensembl)
Lamin B2GeneProductENSG00000176619 (Ensembl)
MAPK9ProteinENSG00000050748 (Ensembl)
MGLLGeneProductENSG00000074416 (Ensembl)
MonoacylglycerolMetaboliteCHEBI:17408 (ChEBI)
PI3KProteinENSG00000121879 (Ensembl)
PLIN1GeneProductENSG00000166819 (Ensembl)
PNPLA2GeneProductENSG00000177666 (Ensembl)
PPARAGeneProductENSG00000186951 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PRRX1GeneProductENSG00000116132 (Ensembl)
Prelamin-A/CProteinP02545 (Uniprot-TrEMBL)
SREBF1GeneProductENSG00000072310 (Ensembl)
STAT5BGeneProductENSG00000173757 (Ensembl)
TriacylglycerolMetabolite17855 (ChEBI)
Unkown geneGeneProduct
ZMPSTE24GeneProductENSG00000084073 (Ensembl)

Annotated Interactions

No annotated interactions

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