Kev Tshawb Fawb Txog Kev Tshawb Fawb: Qhia txog cov xovtooj ntawm cov hlab ntsha cuam tshuam nrog autism

Hauv kev tshawb nrhiav tshiab, cov kws tshawb fawb los ntawm cov chaw tshawb xyuas xws li University of California, San Francisco (Tebchaws USA, San Francisco, California, Tebchaws USA) tau dhau mus ntau dua 100, 000 tuag los ntawm cov neeg muaj autism spectrum tsis meej (ASD) thiab cov neeg tsis muaj ASD. Nuclear hlwb ua ntu zus los ntawm hindbrain cell qhia cov hom noob uas tau ua raws cov cai muaj nyob hauv tus kab mob no thiab cov cell uas yauv txoj cai. Cov txiaj ntsig no pab txo qis lub hom phiaj tshawb nrhiav ASD yav tom ntej rau feem ntau yuav muaj cov roj ntsha thiab feem puas sib txawv ntawm tes. Cov ntaub ntawv tshawb fawb cuam tshuam tau tshaj tawm hauv Science Science thaum lub Tsib Hlis 17, 2019, thiab cov npe ntawm cov ntawv yog" Tib-lub tshuab genomics qhia cov hom cell – kev hloov pauv tshwj xeeb hauv cov tsi txawj has lug txawv" Cov.

Duab ntawm Science, 2019, doi: 10. 1126 / science.aav 8130.

GG quot; Nws siv cov thev naus laus zis tshiab kawg nkaus, nws ua qhov kev tshawb fawb ntawm cov qib ib leeg, nws siv tau thiab txuas ntxiv qhov kev soj ntsuam dhau los," hais tias Daniel Geschwind, uas yog ib tug tshawb fawb tsis txawj hais lus ntawm University of California, Los Angeles (tsis muaj feem cuam tshuam rau txoj kev kawm tshiab no). Cov kev tshawb fawb dhau los tau coj peb mus rau theem kev daws teeb meem uas peb tsis tau ua tiav dhau los."

Stephan Sanders, tus neeg paub txog tshuaj tua kab mob hauv University of California, San Francisco (tsis koom nrog txoj kev tshawb nrhiav tshiab) ntxiv," Qhov no yog kev sim uas yuav tsum tau ua. Ntawm cov koom haum qib, nws dav dua cov kev tshawb fawb yav dhau los ntawm cov tsi txawj has lug. Cov. Tom qab ntawd, thawj zaug, nws tau saib ntawm cov xovtooj ntawm tes twg ua cov sib txawv no."

Tam sim no, qhov tshwm sim ntawm ASD rau cov menyuam hauv tebchaws Asmeskas yog txog 1 hauv 60. Tus kabmob no npog ntau yam mob, uas yog tus yam ntxwv tsis muaj kev sib txuas lus thiab kev sib raug zoo. Txoj kev hloov heterogeneity ntawm ASD ua rau nws cov kev tshawb fawb molecular pathology nyuaj. Thawj tus kws sau ntawv Dmitry Velmeshev uas yog ib tug kws tshawb fawb tom tsev kawm qib siab hauv University of California, San Francisco kws kho mob hlwb Arnold Kriegstein' feem ntau cuam tshuam, suav nrog Synaptic muaj nuj nqi.

Sanders tau taw qhia tias cov kev tshawb fawb yav dhau los tau qhia ntxiv txog kev xav txog kev txo cov noob neuronal thiab kev nce qib glial cell cov lus qhia hauv ASD. Txawm li cas los xij, nws tau piav qhia," Nws tsis paub meej tias cov kev hloov no sawv cev rau qhov sib txawv ntawm cov ntu ntawm lub cell no (piv txwv li cov neurons muaj tsawg) lossis kev txawv txav hauv caj ces uas tshwm sim hauv lub cell."

Velmeshev tau piav qhia tias qhov no yog vim tias" cov neeg ua yog dab tsi ntau ntawm cov kev tshawb fawb txog noob, uas txhais tau tias tsis muaj txoj hauv kev tshawb nrhiav cov hom cell tshwj xeeb." Niaj hnub no, siv kev tsim kho tshiab kev sib txuas ntawm cov thev naus laus zis hu ua ib leeg-nucleus RNA ua ntu zus, Velmeshev thiab cov npoj yaig tau kuaj ntau dua 50, 000 ib lub cell nuclei los ntawm cerebral cortex ntawm 15 ASD cov neeg mob thiab { 16 tswj cov kev tawm Gene nyob rau hauv ntau dua 50, 000 nuclei nyob rau hauv kev kawm' s lub hlwb.

Tom qab tsis siv neeg sib cais ntawm ib leeg nuclei mus rau qhov mob, sau npe barcode thiab ua ntu zus ntawm RNA, cov ntaub ntawv tau txais yuav cia li tso rau ib leeg hlwb raws li lawv qhov barcodes, cia cov hom cell los txiav txim siab raws li kev qhia ntawm lawv cov cim cim tseem ceeb. Nyob rau hauv txoj kev no, Velmeshev' s pab pawg muaj peev xwm kuaj tau cov cell ntau yam muaj qhov sib txawv ntawm cov noob sib txawv ntawm ASD cov neeg mob thiab tswj cov ncauj lus.

Lawv pom tias hauv kev kuaj los ntawm cov neeg mob ASD, cov neurons hauv lub cortex sab saud qhia tau ntau qhov feem ntau ntawm cov noob tsis sib xws, thiab cov caj ces koom nrog ua haujlwm ntawm synaptic thiab hloov ntaub ntawv tau cuam tshuam ntau tshaj plaws. Microglia uas ua lub luag haujlwm hauv kev tiv thaiv lub hlwb tseem ua rau pom kev sib txawv ntawm cov caj ces hauv cov neeg mob ASD, thiab cov tshuaj tiv thaiv microglial thiab kev loj hlob hloov pauv ntawm cov noob muaj feem cuam tshuam.

Dennis Wall, tus kws tshawb nrhiav ASD ntawm Stanford University Tsev Kawm Ntawv Tshuaj (tsis koom nrog txoj kev tshawb fawb tshiab no), hais tias," Qhov no yog qhov kev txaus siab ua ntej, thiab nws zoo li yog qhov kev kawm tsim nyog thiab tseem ceeb ... hauv cov ncauj lus qhia ntxaws heev thiab txoj kev muaj kuab heev Txoj kev qhia tau piav txog muaj feem cuam tshuam. Nws pab txhawb lub hauv paus uas xav paub tshawb fawb ntxiv."

Txawm hais tias Joseph Buxbaum ntawm Icahn Lub Tsev Kawm Ntawv ntawm Cov Tshuaj ntawm Mount Sinai hauv Tebchaws Meskas ntseeg tias" qhov no yog qhov kev kawm muaj kuab" ;, nws txhawj txog cov qauv loj. Nws tau hais tias yog, tej zaum yuav muaj ntau dua li 50, 000 nuclei, tab sis lawv tsuas yog los ntawm 15 tus neeg mob. Nws tau mus txuas ntxiv hais tias qhov no tsis yog" tus txhaum ntawm cov sau phau ntawv" tab sis xav txog" ib qho teeb meem loj hauv daim teb no-cov teeb meem yooj yim ntawm qhov tsis tshua muaj hlwb heev" ;.

GG quot; Kuv ntseeg tau tias txhua yam hauv daim ntawv no nws muaj tseeb, tab sis nws kuj yuav tsis yog universal."

Velmeshev pom zoo, hais" nws yog qhov tseem ceeb rau cov me nyuam hauv cov ntawv loj dua." Nws hais ntxiv," thaum peb sib piv cov loj ntawm cov ntaub ntawv qhia txog noob los ntawm peb cov piv txwv nrog cov ntaub ntawv tsim tawm yav dhau los ... Muaj ntau ntau ntawm ASD ntsig txog kev hloov pauv ntawm datasets," Kriegstein hais tias, thiab tshawb pom" yog txhawb tau zog heev." (los ntawm bioon.com, sau hsppharma.com)

Siv:

Dmitry Velmeshev li al.Lub tshuab ib-genomics qhia cov hom cell – kev hloov pauv tshwj xeeb nyob rau hauv cov ruam (autism)Cov. Kev Tshawb Fawb, 2019, doi: 10. 1126 / science.aav 8130.