- Official Symbol
- LIASprovided by HGNC
- Official Full Name
- lipoic acid synthetaseprovided by HGNC
- Primary source
- HGNC:HGNC:16429
- See related
- Ensembl:ENSG00000121897; HPRD:09514; MIM:607031; Vega:OTTHUMG00000099369
- Gene type
- protein coding
- RefSeq status
- REVIEWED
- Organism
- Homo sapiens
- Lineage
- Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
- Also known as
- LS; LAS; LIP1; PDHLD; HUSSY-01
- Summary
- The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
- Orthologs
- mouse all
Related articles in PubMed
- Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Mayr JA, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152680, Free PMC Article
- Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Baker PR 2nd, et al. Brain, 2014 Feb. PMID 24334290, Free PMC Article
- Lipoic acid synthase (LASY): a novel role in inflammation, mitochondrial function, and insulin resistance. Padmalayam I, et al. Diabetes, 2009 Mar. PMID 19074983, Free PMC Article
- Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria. Morikawa T, et al. FEBS Lett, 2001 Jun 1. PMID 11389890
- Characterization of 16 novel human genes showing high similarity to yeast sequences. Stanchi F, et al. Yeast, 2001 Jan 15. PMID 11124703
GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?
- Patients with LIAS nonketotic hyperglycinemia varied in disease severity and cortical involvement.
- We identified the homozygous mutation c.746G>A (p.Arg249His) in LIAS in an individual with neonatal-onset epilepsy, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine
- Observational study of gene-disease association. (HuGE Navigator)
- Lipoic acid synthetase deficiency results in an overall disturbance in the antioxidant defense network, leading to increased inflammation, insulin resistance, and mitochondrial dysfunction.
Submit: New GeneRIF CorrectionAssociated conditions
Pyruvate dehydrogenase lipoic acid synthetase deficiency is an autosomal recessive disorder of mitochondrial metabolism characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect (Mayr et al., 2011). [from OMIM]Description Tests Pyruvate dehydrogenase lipoic acid synthetase deficiency
- Glyoxylate metabolism and glycine degradation, organism-specific biosystem (from REACTOME)
- Lipoic acid metabolism, organism-specific biosystem (from KEGG)
- Lipoic acid metabolism, conserved biosystem (from KEGG)
- Metabolic pathways, organism-specific biosystem (from KEGG)
- Metabolism, organism-specific biosystem (from REACTOME)
- Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
- lipoate biosynthesis and incorporation, organism-specific biosystem (from BIOCYC)
söndag 13 mars 2016
Liponihaponsyntaasin geeni LIAS
http://www.ncbi.nlm.nih.gov/gene/11019
Liponihapon synteesi ihmisessä: Keggin synteesi
http://www.genome.jp/kegg-bin/show_pathway?map=map00785&show_description=show
Tämä näyttää selkeämmin vaikutetavissa olevalta järjestelmältä rikkiaineenvaihdunnan antioksidanteissa kuin tauriinijärjestelmä. Tauriinin funktioo sasmisessa tarvitaan se P-Hcy vähentäminen. Tauriinin alue on näkymättömämpi tai siis vaikeammin hahmotettavissa tai osoitettavissa kynän kärjellä kuin liponihapon, - Tauriinin vaikutusalue on soluvolyymissa ja ulkopuolellakin solun, mutta liponihapon tehtäväkohta on aivan energian saannin fundamentaalisessa kapeikossa. Liponihapon tarve lie vain aivan mikrogrammaluokkia. mutta sitä täytyy olla.
Verrattuna glutationiin liponihappo on sikäli enemmän saatavilla oleva antioksidanttinen aines, koska sitä voidaan "syödä" kehoon. Mutta pohdin vain jos sitä käyttää liikaa, mitä jos tämä entsymaattinen systeemi säätyy geenitasossa heikommaksi? Geeni on kromosomissa 4p14 ja takuulla konservoitunut.
Tämä näyttää selkeämmin vaikutetavissa olevalta järjestelmältä rikkiaineenvaihdunnan antioksidanteissa kuin tauriinijärjestelmä. Tauriinin funktioo sasmisessa tarvitaan se P-Hcy vähentäminen. Tauriinin alue on näkymättömämpi tai siis vaikeammin hahmotettavissa tai osoitettavissa kynän kärjellä kuin liponihapon, - Tauriinin vaikutusalue on soluvolyymissa ja ulkopuolellakin solun, mutta liponihapon tehtäväkohta on aivan energian saannin fundamentaalisessa kapeikossa. Liponihapon tarve lie vain aivan mikrogrammaluokkia. mutta sitä täytyy olla.
Verrattuna glutationiin liponihappo on sikäli enemmän saatavilla oleva antioksidanttinen aines, koska sitä voidaan "syödä" kehoon. Mutta pohdin vain jos sitä käyttää liikaa, mitä jos tämä entsymaattinen systeemi säätyy geenitasossa heikommaksi? Geeni on kromosomissa 4p14 ja takuulla konservoitunut.
lördag 13 februari 2016
FXR ja antgiotensiinireseptorit
Items: 4
1.
Lehman AM, Montford JR, Horita H, Ostriker AC, Weiser-Evans MC, Nemenoff RA, Furgeson SB.
Mol Pharmacol. 2014 Nov;86(5):570-9. doi: 10.1124/mol.114.092163. Epub 2014 Aug 28.
- PMID:
- 25169989
2.
Levi M, Wang X, Choudhury D.
Contrib Nephrol. 2011;170:209-16. doi: 10.1159/000325668. Epub 2011 Jun 9. Review.
Abstract In spite of excellent glucose and blood pressure control, including administration of angiotensin-converting enzyme inhibitors and/or angiotensin
II receptor blockers, diabetic nephropathy (DN) still develops and
progresses. The development of additional protective therapeutic
interventions is, therefore, a major priority. Nuclear hormone receptors
regulate carbohydrate metabolism, lipid metabolism, the immune
response, inflammation and development of fibrosis. The increasing
prevalence of DN has led to intense investigation of the role that
nuclear hormone receptors
may have in slowing or preventing the progression of renal disease.
Several nuclear receptor-activating ligands (agonists) have been shown
to have a renal protective effect in the context of DN. This review will
discuss the evidence regarding the beneficial effects of the activation
of the vitamin D receptor (VDR) and the farnesoid X receptor (FXR)
in preventing the progression of DN, and will describe how the
discovery and development of compounds that modulate the activity of VDR
and FXR may provide potential additional therapeutic approaches in the management of DN.
Copyright © 2011 S. Karger AG, Basel.
- PMID:
- 21659773
- [PubMed - indexed for MEDLINE]
- PMID:
- 21659773
3.
Levi M.
Biochim Biophys Acta. 2011 Aug;1812(8):1061-7. doi: 10.1016/j.bbadis.2011.04.003. Epub 2011 Apr 14. Review.
- PMID:
- 21511032
4.
Zhang Q, He F, Kuruba R, Gao X, Wilson A, Li J, Billiar TR, Pitt BR, Xie W, Li S.
Cardiovasc Res. 2008 Feb 1;77(3):560-9. Epub 2007 Nov 13.
Abstract AIMS:The farnesoid X receptor (FXR)
is a member of the nuclear receptor superfamily and plays an important
role in the pathogenesis of cardiovascular diseases via regulating the
metabolism and transport of cholesterol. We and others have recently
shown that FXR
is also expressed in the vasculature, including endothelial cells and
smooth muscle cells (SMC). However, the biological significance of FXR activation in SMC is still poorly understood. In this study, we examine the effect of FXR ligands on the angiotensin system in rat aortic SMC (RASMC), as angiotensin II (Ang II) signalling contributes to various types of vascular lesions by promoting cell growth of vascular SMC. METHODS AND RESULTS: Treatment of RASMC with a FXR
ligand showed no obvious effect on the expression of angiotensinogen,
Ang II type 1 receptor (AT1R) or type 4 receptor (AT4R) but led to a
significant increase in the expression of type 2 receptor (AT2R). FXR
ligand treatment also resulted in an inhibition of Ang II-mediated
extracellular signal-regulated kinase (ERK) activation and growth
proliferation. Promoter reporter gene and electrophoretic mobility-shift
assays suggest that FXR upregulates AT2R expression at a transcriptional level. Upregulation of AT2R appears to play a role in the FXR-mediated
inhibition of ERK activation via upregulation of Rous sarcoma oncogene
(Src) homology domain-containing tyrosine phosphatase 1 (SHP-1) because FXR-mediated upregulation of SHP-1 can be blocked by an AT2R antagonist and FXR-mediated ERK inactivation was significantly attenuated via treatment with either an AT2R antagonist or a SHP-1 inhibitor.
CONCLUSION: (Comment: hmmmmm)
FXR in SMC may serve as a novel molecular target for modulating Ang II signalling in the vasculature.- PMID:
- 18006431
- [PubMed - indexed for MEDLINE]
- PMID:
- 18006431
Tauriini ja ihmisen silmän verkkokalvo (Artikkeli vuodelta 2002)
Nutr Neurosci. 2002 Apr;5(2):75-90.
Taurine: evidence of physiological function in the retina. Militante JD1, Lombardini JB.
Abstract
Taurine
is a free amino acid found in high millimolar concentrations in
mammalian tissue and is particularly abundant in the retina. Mammals
synthesize taurine endogenously with varying abilities, with some species more dependent on dietary sources of taurine than others. Human children appear to be more dependent on dietary taurine than adults. Specifically, it has been established that visual dysfunction in both human and animal subjects results from taurine deficiency. Moreover, the deficiency is reversed with simple nutritional supplementation with taurine. The data suggest that taurine is an important neurochemical factor in the visual system. However, the exact function or functions of taurine in the retina are still unresolved despite continuing scientific study. Nevertheless, the importance of taurine in the retina is implied in the following experimental findings: (1) Taurine exhibits significant effects on biochemical systems in vitro. (2) The distribution of taurine is tightly regulated in the different retinal cell types through the development of the retina. (3) Taurine depletion results in significant retinal lesions. (4) Taurine release and uptake has been found to employ distinct regulatory mechanisms in the retina.
- PMID:
- 12000086
- [PubMed - indexed for MEDLINE]
Tauriini , kissat ja koirat . Tauriinin tarve dieetissä
http://www.ncbi.nlm.nih.gov/pubmed/?term=Requirement+of+taurine+in+diet
1.
Kanakubo K, Fascetti AJ, Larsen JA.
J Am Vet Med Assoc. 2015 Aug 15;247(4):385-92. doi: 10.2460/javma.247.4.385.
- PMID:
- 26225610
2.
Espe M, Andersen SM, Holen E, Rønnestad I, Veiseth-Kent E, Zerrahn JE, Aksnes A.
Br J Nutr. 2014 Oct 28;112(8):1274-85. doi: 10.1017/S0007114514002062. Epub 2014 Sep 8.
- PMID:
- 25196630
3.
de Godoy MR, Beloshapka AN, Carter RA, Fascetti AJ, Yu Z, McIntosh BJ, Swanson KS, Buff PR.
J Nutr Sci. 2014 Sep 30;3:e33. doi: 10.1017/jns.2014.46. eCollection 2014.
- PMID:
- 26101602
4.
de Godoy MR, Kerr KR, Fahey GC Jr.
Nutrients. 2013 Aug 6;5(8):3099-117. doi: 10.3390/nu5083099. Review.
- PMID:
- 23925042
5.
Verbrugghe A, Bakovic M.
Nutrients. 2013 Jul 19;5(7):2811-35. doi: 10.3390/nu5072811. Review.
- PMID:
- 23877091
6.
Ko KS, Backus RC, Berg JR, Lame MW, Rogers QR.
J Nutr. 2007 May;137(5):1171-5.
- PMID:
- 17449577
7.
Bouckenooghe T, Remacle C, Reusens B.
Curr Opin Clin Nutr Metab Care. 2006 Nov;9(6):728-33. Review.
- PMID:
- 17053427
8.
Martín-Venegas R, Geraert PA, Ferrer R.
Poult Sci. 2006 Nov;85(11):1932-8.
- PMID:
- 17032826
9.
Backus RC, Ko KS, Fascetti AJ, Kittleson MD, Macdonald KA, Maggs DJ, Berg JR, Rogers QR.
J Nutr. 2006 Oct;136(10):2525-33.
- PMID:
- 16988121
10.
Zhang Y, Dabrowski K, Hliwa P, Gomulka P.
Amino Acids. 2006 Sep;31(2):165-72. Epub 2006 May 29.
- PMID:
- 16733614
11.
Morris JG.
Nutr Res Rev. 2002 Jun;15(1):153-68. doi: 10.1079/NRR200238.
- PMID:
- 19087402
12.
Wu G, Davis PK, Flynn NE, Knabe DA, Davidson JT.
J Nutr. 1997 Dec;127(12):2342-9.
- PMID:
- 9405584
13.
Kim SW, Rogers QR, Morris JG.
J Nutr. 1996 Feb;126(2):509-15.
- PMID:
- 8632225
14.
Kim SW, Morris JG, Rogers QR.
J Nutr. 1995 Nov;125(11):2831-7.
- PMID:
- 7472663
15.
Backus RC, Rogers QR, Morris JG.
J Nutr. 1994 Dec;124(12 Suppl):2540S-2545S.
- PMID:
- 7996233
16.
Dueland S, Drisko J, Graf L, Machleder D, Lusis AJ, Davis RA.
J Lipid Res. 1993 Jun;34(6):923-31.
- PMID:
- 8354958
17.
Uthus EO.
Environ Geochem Health. 1992 Jun;14(2):55-8. doi: 10.1007/BF01783629.
- PMID:
- 24197927
18.
Cowey CB, Cho CY, Sivak JG, Weerheim JA, Stuart DD.
J Nutr. 1992 May;122(5):1154-63.
- PMID:
- 1564569
19.
Cantafora A, Blotta I, Rossi SS, Hofmann AF, Sturman JA.
J Nutr. 1991 Oct;121(10):1522-8.
- PMID:
- 1765815
20.
Earle KE, Smith PM.
Br J Nutr. 1991 Sep;66(2):227-35.
- PMID:
- 1760443
Tauriini ja tauriinikonjugoitu sappihappo
Tässä kun lukee kaikkea hyvää, mitä auriiniinkonjugoidusta sappihapoista johtuu, tulee mieleen että olisiko ihminen siinä suhteessa vähän kissan tapainen, että tarvitsee todella tauriinia myös ravinnossa essentiellinä lisänä. Minäkin kun käyn ruokatavarakaupassa joskus katselen kissanruokia, jotka ovat herkullisemman näköisiä kuin ihmisten ruoat.
Saattaa o0lla että ihimsellä tauriinin muodostus on aineenvaihdunnan akrtan sellaisessa kaukaisessa kärhessä,, että tauriinia pitäisi saada tukena essentiellisti myös, kuten niasiinivitamiinia, vaikka sitä 2Bvitamiinia" muodostuukin jossain aineenvaihdunnan kärjessä.
Tauriinin tarve on mieletäni hahmottamaton seikka. Se katsotaan "kehon itsestään muodostamiin molekyyleihin", joita vain kissa tarvitsee ruoassansa. .
Prenumerera på:
Inlägg (Atom)