7 Hyped GM maize study faces growing scrutinyWord格式.docx
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DisturbedsleeppaternscanpredictafutureAlzheimer'
sdiagnosis.
StevePrezant/Corbis
Adisturbednight'
ssleepmightsignalafuturediagnosisofAlzheimer’sdisease,accordingtofindingspresentedthisweekattheannualmeetingoftheSocietyforNeuroscienceinNewOrleans,Louisiana.
PatientswithAlzheimer’softencomplainofchangesintheirsleeppatternsduringtheearlystagesofthedisease.Inhealthypeople,forexample,daytimenapsusuallylastaround20minutes,buttheycanbeto3hourslonginpatientswithAlzheimer’sdisease.
RoxanneSterniczuk,aneurophysiologistatDalhousieUniversityinHalifax,Canada,andhercolleagueswantedtodeterminehowearlythesechangesoccurandiftheycouldpredictaperson’sfutureriskofdevelopingthedisease.
Sterniczukandhercolleaguesanalyseddatafromaround14,600healthypeople,collectedaspartoftheSurveyofHealth,AgeingandRetirementinEurope(SHARE),along-termobservationalstudyofpeopleaged50andoverfrom12Europeancountries.Theylookedatvariousmeasuresofsleepquality,andusedthemtoproducea‘sleepdisturbanceindex’.
Theresearchersfoundthatparticipantswhoreportedsleepingrestlessly,feelingtiredduringthedayandtakingsleepmedicationweremorelikelytobediagnosedwithAlzheimer’swithinthenext2years,andthatthegreatertheextentoftheseproblems,themoreseverewerethesymptomsofthesubsequentdisease.
“Increaseddaytimesleepinesswasthebiggestpredictor,”saysSterniczuk.“Itwouldappearthatsubtlechangesinthesleep–wakecyclearetakingplacebeforeanydiseasepathology.”
Earlymarker
Alzheimer’sdiseaseischaracterizedbytwohallmarks—thedepositionofinsolubleplaquesmadeupofamyloid-ß
protein,whichaccumulateinthespacesaroundnervecells,andproteinaggregatescalledneurofibrillarytanglesthataredepositedinsidecells.
Sleepdisturbancesmaybeanearlymarkerforthebrainchangesthatoccurasthediseasedevelops,ortheymaycontributetoprogressionofthedisease,saysDavidHoltzman,aneurologistatWashingtonUniversitySchoolofMedicineinStLouis,Missouri,whostudiesAlzheimer’sdisease.“Eitherthatpathologyisbeginningtooccurduringageing,orsleepproblemsleadtoacceleratedAlzheimer’spathologyanddisease,”headds.
Lastmonth,HoltzmanandhiscolleaguesreportedthatinamousemodelofAlzheimer’sthesleep–wakecyclebreaksdownfollowingtheformationofamyloid-ß
plaques,andthateliminatingtheplaquescausedthecycletoreturntonormal,suggestingthatplaqueformationcausesthesleepdisturbances1.Butheaddsthatdistinguishingbetweenthetwopossibilitiesinhumanswillrequirelong-termstudiestoassesshowbiologicalmarkersassociatedwithAlzheimer’sdiseasechangethroughlife.
Sterniczukisnowinvestigatingwhetherthechangesinsleeppatternsarerelatedtoalterationsingeneactivityinthesuprachiasmaticnucleus(视交叉上核),aregionofthebrainthatcontrolsthecircadianrhythm(昼夜节律)andregulatesthesleep–wakecycle.
Sheemphasizeshowimportantitistofindwaystoaccuratelydiagnosetheconditionandidentifypeopleatriskofdevelopingit.“Wehaveanageingpopulationonourhands,andtheremaybeanAlzheimer’spandemic(大流行的)inthenext10–15yearsasthebabyboomersreachthetypicalageofdiagnosis,”shesays.
Journalname:
Nature
DOI:
doi:
10.1038/nature.2012.11620
DNAhasa521-yearhalf-life
Geneticmaterialcan'
tberecoveredfromdinosaurs—butitlastslongerthanthought.
∙MattKaplan
Fewresearchershavegivencredence(信任)toclaimsthatsamplesofdinosaurDNAhavesurvivedtothepresentday,butnooneknewjusthowlongitwouldtakeforgeneticmaterialtofallapart(崩溃,破碎).Now,astudyoffossilsfoundinNewZealandislayingthemattertorest—andputtinganendtohopesofcloningaTyrannosaurusrex(霸王龙).
∙
∙Aftercelldeath,enzymesstarttobreakdownthebondsbetweenthenucleotidesthatformthebackboneofDNA,andmicro-organismsspeedthedecay.Inthelongrun,however,reactionswithwaterarethoughttoberesponsibleformostbonddegradation.Groundwaterisalmostubiquitous,soDNAinburiedbonesamplesshould,intheory,degradeatasetrate.
∙DeterminingthatratehasbeendifficultbecauseitisraretofindlargesetsofDNA-containingfossilswithwhichtomakemeaningfulcomparisons.Tomakemattersworse,variableenvironmentalconditionssuchastemperature,degreeofmicrobialattackandoxygenationalterthespeedofthedecayprocess.
∙Butpalaeogeneticists(古遗传学家)ledbyMortenAllentoftattheUniversityofCopenhagenandMichaelBunceatMurdochUniversityinPerth,Australia,examined158DNA-containinglegbonesbelongingtothreespeciesofextinct(灭绝的)giantbirdscalledmoa(恐鸟,已绝种的纽西兰巨鸟).Thebones,whichwerebetween600and8,000yearsold,hadbeenrecoveredfromthreesiteswithin5kilometresofeachother,withnearlyidenticalpreservationconditionsincludingatemperatureof13.1º
C.ThefindingsarepublishedtodayinProceedingsoftheRoyalSocietyB.
∙Diminishingreturns
∙Bycomparingthespecimens'
(样本)agesanddegreesofDNAdegradation,theresearcherscalculatedthatDNAhasahalf-lifeof521years.Thatmeansthatafter521years,halfofthebondsbetweennucleotidesinthebackboneofasamplewouldhavebroken;
afteranother521yearshalfoftheremainingbondswouldhavegone;
andsoon.
∙Theteampredictsthateveninaboneatanidealpreservationtemperatureof−5º
C,effectivelyeverybondwouldbedestroyedafteramaximumof6.8millionyears.TheDNAwouldceasetobereadablemuchearlier—perhapsafterroughly1.5millionyears,whentheremainingstrandswouldbetooshorttogivemeaningfulinformation.
∙“ThisconfirmsthewidelyheldsuspicionthatclaimsofDNAfromdinosaursandancientinsectstrappedinamberareincorrect,”saysSimonHo,acomputationalevolutionarybiologistattheUniversityofSydneyinAustralia.However,although6.8millionyearsisnowhereneartheageofadinosaurbone—whichwouldbeatleast65millionyearsold—“WemightbeabletobreaktherecordfortheoldestauthenticDNAsequence,whichcurrentlystandsatabouthalfamillionyears,”saysHo.
∙Thecalculationsinthelateststudywerequitestraightforward,butmanyquestionsremain.
∙“Iamveryinterestedtoseeifthesefindingscanbereproducedinverydifferentenvironmentssuchas‘permafrost(永冻层)andcaves,”saysMichaelKnapp,apalaeogeneticistattheUniversityofOtagoinDunedin,NewZealand.
∙Moreover,theresearchersfoundthatagedifferencesaccountedforonly38.6%ofthevariationinDNAdegradationbetweenmoa-bonesamples.“OtherfactorsthatimpactonDNApreservationareclearlyatwork,”saysBunce.“Storagefollowingexcavation(挖除),soilchemistryandeventhetimeofyearwhentheanimaldiedarealllikelycontributingfactorsthatwillneedlookinginto.”Journalname:
10.1038/nature.2012.11555
Rapidtestpinpointsnewborns'
geneticdiseasesindays
Methodraiseshopesforroutinewhole-genomesequencinginneonatal(新生的)intensivecare(重症监护).
MonyaBaker03October2012
AfasterDNAsequencingmachineandstreamlinedanalysisoftheresultscandiagnosegeneticdisordersindaysratherthanweeks,asreportedtodayinScienceTranslationalMedicine.
Uptoathirdofthebabiesadmittedtoneonatalintensivecareunitshaveageneticdisease.Althoughsymptomsmaybesevere,thegeneticcausecanbehardtopindown.Thousandsofgeneticdiseaseshavebeendescribed,butrelativelyfewtestsareavailable,andeventhesemaydetectonlythemostcommonmutations.
Whole-genomesequencingcouldtestformanydiseasesatonce,butitscost,thecomplexityoftheresultsandtheturnaroundtimeareprohibitive.Inwhattheyhopewillbeaprototypeforotherhospitals,aresearchteamledbyStephenKingsmoreatChildren’sMercyHospitalinKansasCity,Missouri,hasimplementedamuchfaster,simplersystemforfindingrelevantmutationsinwhole-genomesequencesthatisdesignedforphy’sicians(内科医生)withoutspecializedgenetictraining.
Thesekindsofinnovationwillhelpmorehospitalsbringsequencingintoclinicalcare,saysRichardGibbs,directorofthehumangenomesequencingcentreatBaylorCollegeofMedicineinHouston,Texas.“Alotofpeoplearegoingtorealizefromthisthatthefutureisnow.”
Sequencingfordisease
Sequencinghasbeenusedbeforetopinpointthecauseofmysteriousdiseases.In2011,Gibbsledateamthatsequenced14-year-oldtwinswithaneurologicalmovementdisorderandfoundawaytoimprovetheirtreatment.Inanotherinstance,whole-genomesequencingsuggestedthatamysteriouscaseofsevereinflammatoryboweldiseasehadageneticcauseandcouldberelievedthroughabonemarrowtransplant.Butboththeseexamplesrequiredseveralweeksandateamofexpertstoresolve.TheChildren’sMercyHospitalplanstoofferroutinesequencingintheneonatalintensivecareunitbytheendoftheyear.
Toorderatest,physicianswillchoosetermsfrompull-downboxestodescribetheinfant'
ssymptoms.Softwarethencompilesalistofpotentialsuspectgenes.Afterthegenomeissequenced,thesoftwarehuntsforandanalysesmutationsinonlythosegenes,whichallowsittocompilealistofpossiblecausativemutationsmorequickly.TheteamhadearlyaccesstoanewDNAsequencingmachinefromsequencingcompanyIllumina,basedinSanDiego,California,thatcouldgenerateawholegenomewithin25hours.Theentireprocess,fr