Matenda a Huntington ndi matenda obadwa nawo komanso obadwa nawo. Powononga ma neurons m'malo ena aubongo, zimayambitsa zovuta zamagalimoto ndi zamisala ndipo zimatha kutayika kwathunthu kudziyimira pawokha komanso kufa. Jini yomwe kusintha kwake kumayambitsa matendawa kudadziwika m'zaka za m'ma 90, koma matenda a Huntington akadali osachiritsika mpaka pano. Zimakhudza munthu m'modzi mwa 10 ku France, omwe amayimira odwala pafupifupi 000.

Nthawi zina imatchedwanso "chorea ya Huntington" chifukwa chizindikiro chodziwika bwino cha matendawa ndi mayendedwe osadziwika (otchedwa choreic) omwe amayambitsa. Komabe, odwala ena sakhala ndi vuto la choreic ndipo zizindikiro za matendawa ndizochulukira: ku zovuta za psychomotor izi nthawi zambiri zimawonjezera matenda amisala ndi machitidwe. Matenda amisala awa omwe amapezeka pafupipafupi kumayambiriro kwa matendawa (ndipo nthawi zina amawonekera musanachitike zovuta zamagalimoto) amatha kuyambitsa kukhumudwa komanso kudzipha. Zizindikiro nthawi zambiri zimawonekera pafupifupi zaka 40-50, koma mitundu yoyambirira komanso mochedwa ya matendawa imawonedwa. Dziwani kuti onse onyamula mutated jini tsiku lina kulengeza matenda.

Dokotala wa ku America George Huntington anafotokoza za matenda a Huntington mu 1872, koma mpaka mu 1993 pamene jini yoyambitsa matendawa inadziwika. Idakhazikitsidwa pamkono wamfupi wa chromosome 4 ndikutchedwa Zamgululi. Matendawa amayamba chifukwa cha kusintha kwa jini komwe kumayendetsa kupanga mapuloteni a huntingtin. Ntchito yeniyeni ya puloteniyi sichidziwikabe, koma tikudziwa kuti kusintha kwa majini kumapangitsa kuti pakhale poizoni: kumayambitsa ma deposits pakati pa ubongo, makamaka mu nucleus ya neurons ya caudate nucleus, kenako ya cerebral cortex. Komabe, ziyenera kudziwidwa kuti matenda a Huntington samalumikizana mwadongosolo ndi IT15 ndipo amatha kuyambitsidwa ndi kusintha kwa majini ena. (1)

Matenda a Huntington amatha kufalikira ku mibadwomibadwo (amatchedwa "autosomal dominant") ndipo chiopsezo chotengera ana ndi chimodzi mwa ziwiri.

Kuwunika kwa majini a matendawa mwa anthu omwe ali pachiopsezo (omwe ali ndi mbiri ya banja) ndi kotheka, koma kuyang'aniridwa kwambiri ndi ntchito yachipatala, chifukwa zotsatira za mayeso sizikhala ndi zotsatira zamaganizo.

Kuzindikira kwa mwana asanabadwe kumathekanso, koma kumakhazikitsidwa ndi lamulo, chifukwa kumadzutsa mafunso a bioethics. Komabe, mayi amene akuganiza zochotsa mimba mwakufuna kwake ngati mluza wake wanyamula jini yosinthidwayo ali ndi ufulu wopempha kuti adziwe zimenezi.

Mpaka pano, palibe mankhwala ochiritsira ndipo kokha chithandizo cha zizindikiro chingathe kuchepetsa munthu wodwala ndikuchepetsa kuwonongeka kwa thupi ndi maganizo: mankhwala osokoneza bongo kuti athetse matenda a maganizo ndi zochitika za kuvutika maganizo zomwe nthawi zambiri zimayenderana ndi matendawa. ; neuroleptic mankhwala kuchepetsa choreic kayendedwe; kukonzanso mwa physiotherapy ndi kulankhula mankhwala.

Kusaka kwa machiritso amtsogolo kumalunjika pakuyika ma neuroni a fetal kuti akhazikitse magwiridwe antchito a ubongo. Mu 2008, ofufuza ochokera ku Pasteur Institute ndi CNRS adatsimikizira kuti ubongo umatha kudzikonza wokha pozindikira gwero latsopano la kupanga ma neuron. Kupezeka kumeneku kumabweretsa chiyembekezo chatsopano chochiza matenda a Huntington ndi matenda ena oyambitsa matenda a neurodegenerative, monga matenda a Parkinson. (2)

Mayesero a mankhwala a gene akuchitikanso m'mayiko angapo ndipo akuyenda mbali zingapo, imodzi mwa izo ndikuletsa kufotokozera kwa jini ya mutated huntingtin.