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Kuongororwa kwemajini muzvirwere zvekufamba: Kugadzirisa kusarudzwa kwebvunzo uye kududzirwa kwemushumo 

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Mumakore gumi apfuura, majini ave chikamu chakakosha chekutsvaga matambudziko ekufamba uye kutarisirwa kwekiriniki, tsika inoonekwa zvakajeka mumisangano yeMDS. Huwandu huri kuramba huchikura hwezviratidziro - uye kunyange nyaya dzekiriniki dzinonetsa dziri muzvikamu zvevhidhiyo - ikozvino dzinosanganisira kuwanikwa kwemajini. Panguva imwe chete, mukana wekuongororwa kwemajini munharaunda yese yePan American wakawedzera, nekuda kwezvirongwa zvemunharaunda nematunhu. Nekuda kweizvozvo, zviri kuve zvakakosha kuti nyanzvi dzezvirwere zvekufamba dzinzwisise mhando dzakasiyana dzebvunzo dzemajini dziripo, simba radzo uye zvisingakwanisike, uye maitirwo ekududzira nekutaura mhedzisiro nenzira yakajeka uye ine chinangwa kuvarwere nemhuri. Ichi ndicho chaive chinangwa chechikamu, umo vakurukuri vatatu vakanaka vakapa nhungamiro inoshanda, iri nyore kunzwisisa pakusarudza bvunzo dzakakodzera uye kunzwisisa mishumo yemajini mumabasa ezuva nezuva ekiriniki.

Muhurukuro yekutanga, “Zvinofanira kuzivikanwa nenyanzvi dzezvirwere zvetsinga nezvekuongorora majini,” Dr. Niccolo Mencacci wekuNorthwestern University (Chicago, USA) vakapa ruzivo rwehunyanzvi hwekuongorora majini hunoenderana nenyanzvi dzezvirwere zvekufamba, vachipa gwara rinoshanda rekushandisa kiriniki.

Hurukuro iyi yakaongorora nzira dziripo pari zvino dzakadai se gene panel sequencing, whole‑exome sequencing (WES), short‑read whole‑genome sequencing (srWGS), uye matekinoroji ari kubuda ekutevedzana kwenguva refu. Panzira yega yega, mharidzo iyi yakaratidza goho rekuongorora, simba, uye zvipingamupinyi. Ichishandisa mienzaniso chaiyo, mharidzo iyi yakaratidza kuti WES neWGS vanogona sei kuwana zvikonzero zvemajini zvisingatarisirwi kana zvakaoma, kusanganisira neurodevelopmental disorder-associated genes mu dystonia uye recessive disorders dzisingaonekwe nema standard panels. Long‑read sequencing yakaunzwa sechishandiso chinoshandura asi chichiri kubuda chinokwanisa kugadzirisa mhando dzakaoma dzemaumbirwo uye kuwedzera kukuru. Hurukuro iyi yakasimbisawo kukosha kwekuwana zvakaenzana kuongororwa kwemajini, ichiratidza zvirongwa zvakaita sePD GENEration: Powered by The Parkinson's Foundation, GP2, uye LARGE‑PD, izvo zvinowedzera kuyedzwa kuvanhu vakasiyana-siyana uye vasina kumiririrwa zvakakwana. Pakupedzisira, yakasimbisa kudiwa kwekuvandudzwa kwedzidzo yemajini uye mazano, ichipa itsva kudzidzisa modules kutsigira vanachiremba.

Muhurukuro yechipiri, “Kugadzirisa Kusarudzwa kweBvunzo dzeMajini: Mhando, Kudzokorora & Mazano"," Dr. David Pellerin vekuMcGill University (Montreal, Canada) vakasimbisa kuti kuyedzwa kwemajini muzvirwere zvekufamba kunofanirwa kutungamirirwa nemaitiro ari pasi pemamorekuru uye phenotype yekiriniki - kwete nehupamhi hwebvunzo hunoonekwa. Matekinoroji akasiyana anoona makirasi akasiyana-siyana: kutevedzana kwekuverenga kupfupi kune miganho yakakosha yekuwedzera kudzokorora uye kusiyana kwemaumbirwo, uye zvinonzi mapaneru "akakwana" anogona kusiya nzira dzakakosha dzekurapa. Kuwedzera kudzokorora - ikozvino kwakabatana nezvirwere zvetsinga zvinopfuura makumi matanhatu - ndizvo zvinowanzo kukonzera ataxia, chorea, uye parkinsonism yakaoma uye zvinoda kuongororwa kwakazvipira kuti kuongororwa kwakarurama. Kuburikidza nezviitiko zvenyika chaiyo, akaratidza kuti kusarudzwa kwebvunzo dzinoenderana nemaitiro, dzinoziva kusiyana kwakakosha sei kuvhara mukaha wekuongorora uye kudzivirira kuongororwa kwakarasika.

Muhurukuro yekupedzisira, “Dudziro yeMajini: Matambudziko uye Maitiro Akanakisisa"," Dr. Jonas Saute vekuHospital de Clínicas de Porto Alegre (Porto Alegre, Brazil) vakakurukura nezvekukosha kwemhando dzakasiyana dzekuongorora majini akadai se exome ne genome sequencing, vachisimbisa mazwi akakosha evanachiremba. Vakasiyanisa zvakawanikwa pakutanga, zvine chekuita ne phenotype yemurwere, kubva pane zvakawanikwa zvechipiri, izvo zvinofanirwa kutaurwa chete kana zvichibvira uye zvine simba mukurapa, zvichida humbowo hwakasimba. Vakasimbisa kukosha kwekupa mazano ejini usati watanga uye mushure mekuongororwa.

Dr. Saute vakaongorora kupatsanurwa kwemarudzi akasiyana pasi pemirayiridzo yeACMG ya2015 (Richards et al., 2015), iyo inosanganisa humbowo hwakadzama kuti igadzire marudzi akasiyana kubva kune asina njodzi kuenda kune ane pathogenic, uye vakatarisa ClinGen Bayesian framework (Tavtiglan et al., 2018, 2020). Vakasimbisa musiyano uripo pakati pekupatsanurwa kwemarudzi akasiyana uye kududzirwa kwekiriniki, mutoro wakagovaniswa pakati perabhoritari nechiremba. Zvakakosha, marudzi asina chokwadi (VUS) haasi ekuongorora. Muzviitiko chaizvo, vakaratidza zvese zvakawanikwa zvisina kukwana zvezvirwere uye kupatsanurwa kwemarudzi matsva kweVUS, vachisimbisa kudiwa kwekududzira kwakanyatsochenjerera kudzivirira kuongororwa kusina kunaka kana kusina kururama.

References

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