Aconitase: Diferenzas entre revisións

AUn serioustrastorno ailmentgrave associatedrelacionado withcoa aconitase isé knowna asdeficiencia aconitasede deficiencyaconitase.<ref name = "Orphanet: Aconitase deficiency">Orphanet, "Aconitase deficiency," April 2008, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=43115</ref> É Itcausada ispor causedunha by[[mutación]] ano mutation[[xene]] inda theproteína genearmazón for iron-sulfurdo ''cluster'' scaffoldde proteinferro-xofre ([[ISCU]]), whichque helpsaxuda builda construír o ''cluster'' thede Fe-S clusterdo onque whichdepende thea activityactividade ofda aconitase depends.<ref name = "Orphanet: Aconitase deficiency" /> TheOs mainprincipais symptomssíntomas areson [[myopathymiopatía]] ande [[exerciseintolerancia intoleranceao exercicio]]; physicala straintensión isfísica lethalpode forser somemortal patientspara becausealgúns itpacientes canporque leadpode toorixinar un [[circulatory shock circulatorio]].<ref name = "Orphanet: Aconitase deficiency" /><ref name=pmid8254022>{{cite journal |pages=2660–6 |doi=10.1172/JCI116882 |title=Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins |year=1993 |last1=Hall |first1=R E |last2=Henriksson |first2=K G |last3=Lewis |first3=S F |last4=Haller |first4=R G |last5=Kennaway |first5=N G |journal=Journal of Clinical Investigation |volume=92 |issue=6 |pmid=8254022 |pmc=288463}}</ref> There are no known treatments for aconitase deficiency.<ref name = "Orphanet: Aconitase deficiency" />

AnotherOutra diseasedoenza associatedasociada withcoa aconitase isé a [[Friedreich's ataxia de Friedreich]] (FRDA), whichque isse causedorixina whencando theas Feproteínas ferro-Ssulfuradas proteins inna aconitase ande na [[succinatesuccinato dehydrogenasedeshidroxenase]] havediminuíron a decreasedsúa activityactividade.<ref name=pmid20481466>{{cite journal |pages=4945–56 |doi=10.1021/bi1004798 |title=Human Iron−Sulfur Cluster Assembly, Cellular Iron Homeostasis, and Disease |year=2010 |last1=Ye |first1=Hong |last2=Rouault |first2=Tracey A. |journal=Biochemistry |volume=49 |issue=24 |pmid=20481466 |pmc=2885827}}</ref> AUn proposedmecanismo mechanismproporsto forpara thisesta connectionconexión isé thatque decreasedo decrecemento da actividade Fe-S activity inna aconitase ande succinatesuccinato dehydrogenasedeshidroxenase isestá correlatedcorrelacionada withcun excessexceso ironna concentrationconcentración inde theferro mitochondriana andmitocondria insufficiente ironunha ininsuficiencia thede cytoplasmferro no citoplasma, disruptingo que trastorna a [[ironhomeostase do homeostasisferro]].<ref name=pmid20481466/> ThisEsta deviancedesviación fromda homeostasis[[homeostase]] causescausa FRDAa ataxia de Friederich, aque é unha [[neurodegenerativeenfermidade diseaseneurodexenerativa]] forpara whicha nocal non hai effectivetratamentos treatmentsefectivos haveata beeno foundmomento.<ref name=pmid20481466/>

FinallyFinalmente, a aconitase iscrese thoughtque toestá beasociada associated withcoa [[diabetes]].<ref name=pmid3884379/><ref name = "type 1 source"/> AlthoughDe thetodos exactos connectionxeitos, isa stillconexión beingexacta determined,aínda está por determinar e multipleexisten theoriesdiversas existteorías.<ref name=pmid3884379>{{cite journal |pages=173–6 |doi=10.1016/0014-5793(85)80979-0 |title=Alterations in mitochondrial aconitase activity and respiration, and in concentration of citrate in some organs of mice with experimental or genetic diabetes |year=1985 |last1=Boquist |first1=L. |last2=Ericsson |first2=I. |last3=Lorentzon |first3=R. |last4=Nelson |first4=L. |journal=FEBS Letters |volume=183 |pmid=3884379 |issue=1}}</ref><ref name= "type 1 source"/> InNun aestudo studydos ofórganos organsde fromratos micecon withdiabetes alloxan (unha diabetes (experimentallyinducida induced diabetesexperimentalmente<ref name="alloxan def">"Alloxan Diabetes - Medical Definition," Stedman's Medical Dictionary, 2006 Lippincott Williams & Wilkins, http://www.medilexicon.com/medicaldictionary.php?t=24313</ref>) ande genetica diabetes xenética, loweratopouse unha baixa actividade de aconitase, activityque wasfacía founddecrecer toa decreasevelocidade thedas ratesreaccións of[[metabolismo|metabólicas]] metabolicnas reactionsque involvinginterveñen citrateo [[citrato]], pyruvate[[piruvato]], ande malate[[malato]].<ref name=pmid3884379/> In additionAdemais, citrateas concentrationconcentracións wasde observedcitrato toeran beinusualmente unusually highaltas.<ref name=pmid3884379/> SinceComo theseestes abnormaldatos dataanormais werese foundatoparon inen diabeticratos micediabéticos, theo studyestudo concludedtirou thata lowconclusión aconitasede activityque isa likelyactividade correlatedbaixa withda geneticaconitase andestá alloxanprobablemente correlacionada coa diabetes xenética e alloxan.<ref name=pmid3884379/> AnotherOutra theoryteoría isé thatque, innos diabeticcorazóns heartsdiabéticos, accelerateda phosphorylation[[fosforilación]] ofacelerada heartda aconitase bydo proteincorazón kinasepola [[proteína quinase C]] causes aconitasecausa toque speeda upaconitase theacelere o paso final stepda ofsúa reacción itsinversa reverseen reactioncomparación relativecoa toreacción itsnormal forwardcara reactionadiante.<ref name = "type 1 source"/> É That isdicir, itconverte convertso isocitrateisocitrato backde tonovo en ''cis''-aconitateaconitato moremáis rapidlyrapidamente thando usualnormal, butpero thea forwardreacción reactioncara proceedsadiante atcontinúa therealizándose usualá ratevelocidade normal.<ref name = "type 1 source"/> ThisEste imbalancedesequilibrio maypode contributecontribuír toa disruptedtrastorar metabolismo inmetabolismo nos diabeticsdiabéticos.<ref name = "type 1 source">{{cite journal |pages=919–32 |doi=10.1007/s00018-009-8696-3 |title=Regulation of mitochondrial aconitase by phosphorylation in diabetic rat heart |year=2009 |last1=Lin |first1=G. |last2=Brownsey |first2=R. W. |last3=MacLeod |first3=K. M. |journal=Cellular and Molecular Life Sciences |volume=66 |issue=5 |pmid=19153662}}</ref>