Izakhi zofuzo ezihilelekile ekusebenzeni kwesimiso somzimba sokuzivikela komzimba zinezindlela zokuveza ezingavamile ebuchosheni babantu abanezinkinga ezithile zezinzwa nezengqondo, okuhlanganisa ne-autism, ngokusho kocwaningo olusha lwezinkulungwane zamasampula obuchopho ngemva kokufa.
Kuma-immune genes angu-1,275 afundwe, angu-765 (60%) abonakala kakhulu noma ephansi ebuchosheni babantu abadala abanesinye sezifo eziyisithupha: i-autism, i-schizophrenia, i-bipolar disorder, ukucindezeleka, isifo se-Alzheimer, noma isifo sikaParkinson. Lawa maphethini okubonakaliswa ayahlukahluka kuye ngesimo, okuphakamisa ukuthi ngalinye “linezimpawu ezihlukile,” kusho umcwaningi oholayo uChunyu Liu, uprofesa wezifo zengqondo kanye nesayensi yokuziphatha eNorthern State Medical University eSyracuse, eNew York.
Ngokusho kukaLiu, ukuvezwa kwezakhi zofuzo zokuzivikela komzimba kungasebenza njengophawu lokuvuvukala. Lokhu kusebenza kwamasosha omzimba, ikakhulukazi esibelethweni, kuhlotshaniswa ne-autism, yize indlela okwenzeka ngayo ingacacile.
“Umbono wami ukuthi amasosha omzimba adlala indima ebalulekile ezifweni zobuchopho,” kusho uLiu. “Ungumdlali omkhulu.”
UChristopher Coe, uprofesa osethathe umhlalaphansi wesayensi yezengqondo yezinto eziphilayo eNyuvesi yaseWisconsin-Madison, owayengahilelekile ocwaningweni, uthe akunakwenzeka ukuqonda ocwaningweni ukuthi ukusebenza kwamasosha omzimba kudlala indima yini ekubangeni noma yisiphi isifo noma isifo uqobo. Lokhu kwaholela ezinguqukweni ekusebenzeni kwamasosha omzimba.
ULiu nethimba lakhe bahlaziye amazinga okubonakaliswa kwezakhi zofuzo zomzimba ezingu-1,275 kumasampula obuchopho angu-2,467 angemva kokufa, okuhlanganisa nabantu abangu-103 abane-autism kanye nezilawuli ezingu-1,178. Idatha itholakale kudathabheyisi ezimbili ze-transcriptome, i-ArrayExpress kanye ne-Gene Expression Omnibus, kanye nakwezinye izifundo ezishicilelwe ngaphambilini.
Izinga elijwayelekile lokubonakaliswa kwezakhi zofuzo ezingu-275 ebuchosheni beziguli ezine-autism lihlukile kwelo eliseqenjini lokulawula; Ubuchopho beziguli ezine-Alzheimer's bunezakhi zofuzo ezingu-638 ezivezwe ngendlela ehlukile, kulandele i-schizophrenia (220), i-Parkinson's (97), i-bipolar (58), kanye nokucindezeleka (27).
Amazinga okuvezwa kwemizwa ayehlukahluka kakhulu kwabesilisa abane-autism kunabesifazane abane-autism, futhi ubuchopho babesifazane abacindezelekile babuhluke kakhulu kunobabesilisa abacindezelekile. Izimo ezine ezisele azibonisanga mehluko ngokobulili.
Amaphethini okubonakaliswa ahlobene ne-autism akhumbuza kakhulu izifo zezinzwa ezifana ne-Alzheimer's kanye ne-Parkinson's kunezinye izifo zengqondo. Ngokwencazelo, izifo zezinzwa kumele zibe nezici zomzimba ezaziwayo zobuchopho, njengokulahlekelwa okuphawulekayo kwama-dopaminergic neurons esifweni sikaParkinson. Abacwaningi abakasichazi lesi sici se-autism.
“Lokhu [ukufana] kumane kunikeza isiqondiso esengeziwe okudingeka sisihlole,” kusho uLiu. “Mhlawumbe ngolunye usuku sizoqonda kangcono i-pathology.”
Izakhi zofuzo ezimbili, i-CRH kanye ne-TAC1, zazivame ukuguqulwa kulezi zifo: I-CRH yayincishisiwe kuzo zonke izifo ngaphandle kwesifo sikaParkinson, kanti i-TAC1 yayincishisiwe kuzo zonke izifo ngaphandle kokucindezeleka. Zombili izakhi zofuzo zithinta ukusebenza kwe-microglia, amangqamuzana omzimba obuchopho.
UCoe uthe ukusebenza kwe-microglia okungavamile “kungonakalisa i-neurogenesis evamile kanye ne-synaptogenesis,” ngendlela efanayo kuphazamise umsebenzi we-neuron ngaphansi kwezimo ezahlukahlukene.
Ucwaningo lwango-2018 lwezicubu zobuchopho ngemva kokufa luthole ukuthi izakhi zofuzo ezihlotshaniswa nama-astrocyte kanye nomsebenzi we-synaptic zivezwa ngokulinganayo kubantu abane-autism, i-schizophrenia, noma i-bipolar disorder. Kodwa ucwaningo luthole ukuthi izakhi zofuzo ze-microglial zazivezwa ngokweqile kuphela ezigulini ezine-autism.
Abantu abasebenzisa izakhi zofuzo zomzimba kakhulu bangase babe “nesifo sokuvuvukala kwemizwa,” kusho uMichael Benros, umholi wocwaningo kanye noprofesa wezokwelapha ngengqondo okungokwemvelo nokunembile eNyuvesi yaseCopenhagen eDenmark, owayengahilelekile kulo msebenzi.
"Kungaba yinto ethokozisayo ukuzama ukuthola la maqembu amancane angaba khona bese uwanikeza ukwelashwa okuqondile," kusho uBenroth.
Ucwaningo luthole ukuthi izinguquko eziningi zokubonakaliswa ezibonwe kumasampula ezicubu zobuchopho azikho kumasethi edatha amaphethini okubonakaliswa kwezakhi zofuzo kumasampula egazi avela kubantu abanesifo esifanayo. Lokhu "okungalindelekile" okutholakele kukhombisa ukubaluleka kokutadisha ukuhlelwa kobuchopho, kusho uCynthia Schumann, uprofesa wezifo zengqondo kanye nesayensi yokuziphatha e-MIND Institute e-UC Davis, owayengahilelekile kulolu cwaningo.
ULiu nethimba lakhe bakha amamodeli eseli ukuze baqonde kangcono ukuthi ukuvuvukala kuyimbangela yesifo sobuchopho.
Lesi sihloko sanyatheliswa okokuqala ku-Spectrum, iwebhusayithi ehamba phambili yezindaba zocwaningo lwe-autism. Caphuna lesi sihloko: https://doi.org/10.53053/UWCJ7407