Chirwere cheHuntington chirongwa chekuzvimiririra chinotarisana nechinangwa chekuberekwa kwemafuro. Iko maitiro asina kukwana, kuwedzerwa kwekudzoka kweCAG, kunowanikwa pane chromosome 4.
Ndezvipi Zvirwere zveHuntington?
Chirwere cheHuntington chinotora nhaka iyo inoratidzirwa nechirwere chinokonzera kufamba uye kuora mwoyo kwepfungwa . Chirwere cheHuntington chinotanga kusvika pazera remakore makumi mana nemasere, uye, kazhinji, chinotanga pamakore ekuyaruka.
Avo avo vanotambudzwa nechirwere cheHuntington vane tarisiro yehupenyu yemakore anenge 10-20 mushure mokutanga kwezviratidzo.
Izvi zvinokonzera kuremara kwakakura nekuwedzera kuvimba kune vanochengeta kana vachifambira mberi. Chirwere cheHuntington chinenge chisingawanzwisisiki, chinokanganisa vanenge 1 kubva kune vanhu gumi nemakumi maviri kusvika kune gumi nezviuru munyika yose, vane huwandu hwakanyanya kudarika pakati pevanhu veEurope.
Zvinosuruvarisa, chirwere chaHuntington hachigoni kurapwa , uye avo vanoonekwa kuti vane chirwere chacho havakwanisi kurapwa kunze kwekuchengetedza, izvo zvinongororerwa kudzivirira nekukuvara kwezvinetso, zvakadai sekushaya zvokudya zvinovaka muviri uye zvirwere.
Ijena rinokonzera chirwere chaHuntington rakawanikwa muna 1993, uye kuongorora ropa kunowanika kuziva kuti iwe unotakura geni.
Migumisiro yechirwere uye kusashaiwa kwechirwere ndeimwe yezvikonzero nei vanhu vakaziva chirwere cheHuntington mumhuri vachitsvaga kuongorora mazita.
Kuziva chirwere ichi kuburikidza nekuongororwa kwemajini kunogona kubatsira mhuri kugadzirira matambudziko ari kuuya, uye inogona kubatsira mukuita zvisarudzo maererano nekuronga mhuri.
Heredity yeHurtington's Disease
Chimwe chezvikonzero zvinokonzerwa nehutachiona hwehutano hwaHuntington ndeyekuti mamiriro acho ehurumende ndiyo yakawanda .
Izvi zvinoreva kuti kana munhu akawana nhaka imwe chete yechipfuva chechirwere cheHuntington, munhu iyeye anokwanisa kuwedzera chirwere chacho.
Ijena yeHuntington iri pa chromosome 4. Vanhu vose vanogara makopi maviri ega rimwe nerimwe; saka vanhu vose vane makopiomome maviri. Chikonzero nei chirwere ichi chinonyanya kukosha ndechekuti kuva nechirema chimwe chete chinokonzerwa nemamiriro ezvinhu, kunyange kana munhu ane imwe chromosome yakajairika. Kana uine mubereki ane chirwere ichi, mubereki wako ane chromosome imwe ine urema uye imwe chromosome isina chirema. Iwe nemumwe wevanin'ina vako mune 50 mukana wekodzero yekuwana chirwere ichi kubva kumubereki wako akabatwa.
Genetics yeHurtington's Disease
Gene coding inogadzirwa nekuenzanirana kweyucleic acids, iyo maomoreksi pane DNA yedu iyo inoratidzira mapuroteni ayo miviri yedu inoda basa rakanaka. Izvo zvakakosha zvinyorwa muhutano hwaHuntington ndiko kuwedzera kwenhamba yekudzokorora kwetatu nucleic acids, cytosine, adenine uye guanine, munharaunda yeexon yekutanga ye HD gene. Izvi zvinotsanangurwa sekudzokorora kweCAG.
Kazhinji, tinofanira kuva ne20 CAG kudzokorora munzvimbo ino. Kana iwe uine kudzokorora kudarika 26, hauna kutarisirwa kuvaka chirwere chaHuntington.
Kana uine pakati pe27 ne35 CAG kudzokorora, haunzwisisi kukudziridza mamiriro acho ezvinhu, asi iwe uri pangozi yekupedza chirwere kuvana vako. Kana uine pakati pe 36 ne40 inodzokorora, unogona kukudziridza mamiriro ako pachako. Vanhu vane makore anodarika makumi mana emakumi mashanu ekudzoka kweCAG vanotarisirwa kuwedzera chirwere chacho.
Imwe tsanangudzo nehutachiona hwechimiro iyi ndeyokuti nhamba yekudzokorora inowanzowedzera nechizvarwa chimwe nechimwe, chimwe chinhu chinonzi kufungidzira. Saka, somuenzaniso, kana iwe une mubereki ane 27 CAG achidzokorora munharaunda inokonzera chirwere chaHuntington, iwe unogona kuva nehanzvadzi ine kudzokorora 31, uye munin'ina wako angave ane mwana anezve kudzokorora.
Kukosha kwekufungidzira muzvinyorwa zvechirwere cheHuntington ndechokuti munhu anezve huwandu hwekudzoka kweCAG anotarisirwa kuwedzera zviratidzo zvechirwere mberi kwekuti munhu ane zvishoma zvadzo zvakare.
Dambudziko reHuntington Genetic Test Logistics
Nzira yekuongororwa nayo chirwere chaHuntington iri kuburikidza nekuongororwa ropa. Kururama kwemuedzo kwakanyanya kwazvo. Kazhinji, nokuti chirwere chaHuntington chakanyanya kukanganisa, kupiwa mazano kunoratidzirwa mushure mekunge mave nemigumisiro yeiyo genetic test.
Pane dzimwe nzira iyo chiremba wako angashandisa kuti uwedzere kududzira mhinduro dzako. Somuenzaniso, kana iwe uchiziva kuti une mubereki ane chirwere chaHuntington, chiremba wako anogona kuedza mumwe mubereki wako uye kuti aone kuti nhamba yeCAG inodzokorora sei pane imwe yekromosomes yako inofananidzwa nenhamba yekudzokorora kwechromosomes yevabereki vako . Kuedzwa kwevanin'ina vako kunogona kubatsirawo kuisa mhinduro pakuona.
Maitiro ayo HD Gene anokonzera Matambudziko aHuntington
Dambudziko rehutano rehutano hwaHuntington, reCAG rinodzokorora, rinokonzera kusakosha mukugadzirwa kweprotheni inonzi huntingtin protein. Haisi kunyatsotsanangurira zvakajeka kuti chirongwa ichi chinoita sei kuvanhu vasina chirwere chaHuntington. Izvo zvinozivikanwa, zvisinei, ndezvokuti muhosha yaHuntington, chirongwa chekuvhima chinopfuura nguva uye chinowanzosvika pakuparadzana (kuputika kuita zvikamu zviduku). Inofungidzirwa kuti ichi chinopisa kana kuti kuparadzanisa kunokonzerwa kunogona kuva chepfu kune masero europi muuropi.
Nzvimbo chaiyo yeuropi yakakonzerwa nechirwere cheHuntington ndiyo yeBasal ganglia, nzvimbo yakadzika muuropi iyo inozivikanwawo kuti inotarisira chirwere chePalinson. Kufanana nechirwere chePasinson, chirwere chaHuntington chinoratidzirwa nezvinetso zvokufambisa, asi chirwere chaHuntington chinokurumidza kufambira mberi, chinouraya, uye kuora mwoyo kwechiratidzo ndicho chiratidzo chakakurumbira chechirwere.
Shoko Rinobva
Chirwere cheHuntington chirwere chinoparadza chinokanganisa vanhu munguva yepakati pekutanga uye chinotungamirira kurufu mumakore makumi maviri. Pasinei nokunzwisisa kwesayenzi kwechirwere ichi, pane, zvinosuruvarisa, hapana kurapwa kunogona kuderedza kufambira mberi kwechirwere uye pasina mushonga wechirwere chacho.
Kuongorora zvirwere zveHentington kune chirwere chikuru chinogona kubatsira pakuita zvisarudzo. Migumisiro yekuenzaniswa kwemafuro inogona kubatsira mukuronga kwemhuri, nekugadzirira kwekuremara nekutanga kufa.
Kana iwe kana mumwe munhu waunoziva ane chirwere chaHuntington kana kuti akaudzwa kuti chirwere ichi chichabuda mumakore anouya, zvinobatsira kuti ubatane nemapoka ekutsigira senzira yekunzwisisa pamusoro pokuti ungagadzirisa sei uye kuvimba kune avo vane zvakaitika zvakafanana.
Uyezve, kunyange pasina kurapa panguva ino, tsvakurudzo iri kufambira mberi, uye iwe unogona kufunga nezvekubatanidzwa muchikwata chekutsvakurudza senzira yekudzidza pamusoro pezvaunogona kuita uye kuwana ruzivo rwekuvandudza nekuvandudzwa kwekurapa maitiro.
> Sources:
> Bates GP, Dorsey R, Gusella JF. Et al. Huntington chirwere. Nat Rev Dis Primers. 2015 Apr 23; 1: 15005. doi: 10.1038 / nrdp.2015.5.
> Richard H. Myers. Dambudziko reHuntington Genetics. NeuroRx. 2004 Apr; 1 (2): 255-262. doi: 10.1602 / neurorx.1.2.255 PMCID: PMC534940 PMID: 15717026