Matenda a Huntington ndi chikhalidwe chachikulu chokhala ndi choloŵa chokhala ndi choloŵa choyambirira chomwe chili ndi mayeso oyesera. Kusabadwa kwa jini, kuwonjezeka kwa kubwereza kwa CAG, kumapezeka pa chromosome 4.
Matenda a Huntington N'chiyani?
Matenda a Huntington ndi chikhalidwe choloŵa cholowa chomwe chimadziwika ndi vuto lalikulu la kayendetsedwe ka matenda ndi kuthamangitsidwa kwaumtima . Matenda a Huntington amayamba pafupifupi zaka makumi anayi ndi makumi anayi (40) pafupipafupi, ndipo, mocheperapo, amayamba zaka zaunyamata.
Anthu omwe ali ndi matenda a Huntington ali ndi chiyembekezo cha moyo cha zaka 10-20 pambuyo poyambira zizindikiro.
Chikhalidwe chimayambitsa kulemala kwakukulu ndi kudalira kwakukulu kwa osowa chithandizo pamene ikukula. Matenda a Huntington ndi achilendo, omwe amachititsa pafupifupi anthu mmodzi mwa anthu 10,000 mpaka 10,000,000 padziko lonse lapansi, omwe ali ndi chiwerengero chokwanira pakati pa anthu a ku Ulaya.
Mwamwayi, matenda a Huntington sangathe kuchiritsidwa , ndipo omwe amapezeka kuti ali ndi matendawa alibe njira zothandizira kupatula chithandizo chothandizira, chomwe chimayang'ana kupewa kuvulaza ndi kupeŵa mavuto, monga kusoŵa zakudya m'thupi ndi matenda.
Gulu loyambitsa matenda a Huntington linapezedwa mu 1993, ndipo kuyesa magazi kumapezeka kuti mudziwe ngati muli ndi jini.
Zotsatira za matendawa ndi kusowa chithandizo ndi zina mwa zifukwa zomwe anthu omwe adziwa matenda a Huntington m'banjamo amayesa kufufuza kwa majeremusi.
Kudziwa matendawa pogwiritsa ntchito ma genetic kungathandize mabanja kukonzekera mavuto omwe akuyandikira, ndipo zingathandize popanga zisankho zokhudzana ndi kulera.
Ukhondo wa Matenda a Huntington
Chimodzi mwa zifukwa zomwe matenda a Huntington akuyendera ndi othandiza kwambiri ndikuti vutoli ndi lodziwika kwambiri .
Izi zikutanthauza kuti ngati munthu adzalandira jini imodzi yokha yolakwika ya matenda a Huntington, ndiye kuti munthuyo amakhala ndi matendawa.
Gulu la Huntington lili pa chromosome 4. Anthu onse alandira makope awiri a jini; kotero anthu onse ali ndi makope awiri a chromosome 4. Chifukwa chake matendawa ndiwopambana kuti kukhala ndi jini imodzi yokha ndi yokwanira kuchititsa chikhalidwe, ngakhale munthu ali ndi chromosome yachibadwa. Ngati muli ndi kholo lomwe liri ndi matendawa, kholo lanu liri ndi chromosome imodzi yokhala ndi vuto ndi chromosome imodzi yopanda chilema. Inu ndi abale anu onse muli ndi mwayi wokhala ndi kachilombo ka HIV kuchokera kwa kholo lanu lotayirira.
Matenda Achibadwa a Matenda a Huntington
Gene coding ndi yopangidwa ndi nucleic acids, yomwe ndi ma molekyulu pa DNA yathu yomwe imatulutsa mapuloteni omwe matupi athu amafunikira kuti azigwira bwino ntchito. Kuwonongeka kwachinsinsi kwa matenda a Huntington ndi kuwonjezeka kwa chiwerengero cha kubwereza kwa nucleic acid, cytosine, adenine ndi guanine, m'dera la exon yoyamba ya HD jini. Izi zikufotokozedwa ngati kubwereza kwa CAG.
Kawirikawiri, timayenera kukhala ndi kubwereza kwa CAG 20 pamalo ano. Ngati muli ndi zobwereza zosachepera 26, simukuyembekezera kuti mukhale ndi matenda a Huntington.
Ngati muli ndi pakati pa 27 ndi 35 kubwereza CAG, simungathe kukhala ndi vutoli, koma muli pachiopsezo chotengera matendawa kwa ana anu. Ngati muli ndi zaka 36 mpaka 40, mutha kukhala ndi vuto lanu. Anthu omwe ali ndi zaka zoposa makumi anayi makumi asanu ndi atatu (40) amagwiritsira ntchito matendawa.
Chidziwitso china ndi vuto la chibadwa ndi chakuti chiwerengero cha kubwereza kawirikawiri chikuwonjezeka ndi mbadwo uliwonse, zochitika zomwe zimadziwika ngati kuyembekezera. Mwachitsanzo, ngati muli ndi kholo lomwe liri ndi chiwerengero cha CAG 27 m'derali chifukwa cha matenda a Huntington, mukhoza kukhala ndi mchimwene wanu wobwereza 31, ndipo mbale wanu akhoza kukhala ndi mwana yemwe akubwereza mobwerezabwereza.
Kufunika kwa kuyembekezera mu chikhalidwe cha matenda a Huntington ndikuti munthu yemwe ali ndi kubwereza kwa CAG akuyembekezeredwa kukhala ndi zizindikiro za matendawa kusiyana ndi munthu yemwe akubwereza mobwerezabwereza.
Matenda a Huntington a Genetic Test Logistics
Njira yopewera matenda a Huntington ndi kupyolera magazi. Kulondola kwa mayesero ndipamwamba kwambiri. Kawirikawiri, chifukwa cha matenda a Huntington ndi ovuta kwambiri, uphungu umalimbikitsidwa musanayambe komanso pambuyo pa zotsatira za mayeso.
Pali njira zina zomwe dokotala angagwiritsire ntchito pofuna kutanthauzira bwino zotsatira za mayeso. Mwachitsanzo, ngati mukudziwa kuti muli ndi kholo la matenda a Huntington, dokotala wanu akhoza kuyesa kholo lanu lina ndikuwona momwe chiwerengero cha CAG chimabwereza pa chromosomes yanu iliyonse chikuyerekeza ndi chiwerengero cha kubwereza kwa chromosomes ya makolo anu . Kuyesedwa kwa abale athu kungathandizenso kuika zotsatirapo.
Mmene HD Gene imachititsa Matenda a Huntington
Matenda a hunting a matenda a Huntington, omwe amagwiritsidwa ntchito mobwerezabwereza, amachititsa chinthu chosavuta kupanga puloteni yotchedwa protein huntingtin. Siziwonekeratu bwino zomwe mapuloteni awa amachita kwa anthu omwe alibe matenda a Huntington. Chimene chimadziwika, komabe, ndi chakuti mu matenda a Huntington, mapuloteni a hunting ndi aatali kuposa nthawi zonse ndipo amayamba kugawidwa (kuphwanya zigawo zing'onozing'ono). Amakhulupirira kuti kupatukana kumeneku kapena kupatukana kumeneku kungakhale koopsa kwa maselo a ubongo mu ubongo.
Dera lapadera la ubongo lomwe linakhudzidwa ndi matenda a Huntington ndi chigwa cha basal, chigawo cha ubongo chomwe chimadziwika kuti chimayambitsa matenda a Parkinson. Monga matenda a Parkinson, matenda a Huntington amadziwika ndi mavuto oyendayenda, koma matenda a Huntington akupita patsogolo kwambiri, amafa, komanso dementia ndi chizindikiro chachikulu kwambiri cha matendawa.
Mawu Ochokera
Matenda a Huntington ndi ovuta kwambiri omwe amakhudza anthu a zaka zapakati pazaka zapakati ndipo amatsogolera ku imfa mkati mwa zaka 20. Ngakhale kumvetsa kwa sayansi kwa matendawa, pali, mwatsoka, palibe chithandizo chimene chingalepheretse matenda komanso kuchepetsa matenda.
Kuyesedwa kwa majeremusi kwa matenda a Huntington ndi chitukuko chachikulu chomwe chingathandize pakupanga zisankho. Zotsatira za kuyesedwa kwa majeremusi zingathandize pa kulera, ndikukonzekera kulemala ndi imfa yoyambirira.
Ngati inu kapena munthu wina yemwe mumamudziwa ali ndi matenda a Huntington kapena atauzidwa kuti matendawa adzatuluka m'zaka zikubwerazi, ndizothandiza kulumikizana ndi magulu othandizira ngati momwe mungamvetsetsere momwe mungapirilire ndi kudalira anthu omwe ali ndi zofanana.
Kuonjezerapo, ngakhale palibe chithandizo pakadali pano, kafukufuku akupitiliza, ndipo mukhoza kulingalira kuti mukuchita nawo kafukufuku monga njira yophunzirira zomwe mungachite ndi kupeza njira zatsopano zomwe zikukulirakulira komanso zakuthandizira.
> Zotsatira:
> Bates GP, Dorsey R, Gusella JF. Ndipo al. Matenda a Huntington. Nat Rev Dis Primers. 2015 Apr 23; 1: 15005. do: 10.1038 / nrdp.2015.5.
> Richard H. Myers. Matenda a Huntington a Genetics. NeuroRx. 2004 Apr; 1 (2): 255-262. do: 10.1602 / neurorx.1.2.255 PMCID: PMC534940 PMID: 15717026