Boloetse ba Huntington ke lefutso le lefutso la neurodegenerative. Ka ho senya methapo ea kutlo likarolong tse itseng tsa boko, e baka mathata a matla a koloi le kelello 'me e ka lebisa tahlehelong e felletseng ea boipuso le lefu. Lefutso leo phetoho ea lona e bakang lefu lena le ile la tsejoa lilemong tsa bo-90, empa lefu la Huntington le ntse le sa phekolehe ho fihlela kajeno. E ama motho a le mong ho ba 10 naheng ea Fora, e emelang bakuli ba ka bang 000.

Ka linako tse ling e ntse e bitsoa "chorea ea Huntington" hobane matšoao a mantlha a lefu lena ke metsamao e sa reroang (e bitsoang choreic) eo e e bakang. Leha ho le joalo, bakuli ba bang ha ba hlahise mathata a choreic mme matšoao a lefu lena a pharalletse: ho mafu ana a psychomotor hangata a eketsoa mafu a kelello le a boitšoaro. Mathata ana a kelello a hlahang khafetsa qalong ea lefu lena (mme ka linako tse ling a hlaha pele ho mathata a koloi) a ka lebisa ho 'dementia' le ho ipolaea. Matšoao a atisa ho hlaha ho pota lilemo tse 40-50, empa mefuta ea pele le ea morao ea lefu lena e hlokomeloa. Hlokomela hore bohle ba tsamaisang liphatsa tsa lefutso tse fetotsoeng ka letsatsi le leng ba phatlalatsa lefu lena.

Ngaka ea Leamerika, George Huntington, e ile ea hlalosa lefu la Huntington ka 1872, empa e bile ka 1993 moo lefutso le ikarabellang le ileng la fumanoa. E ne e le sebakeng sa letsoho le lekhutšoanyane la chromosome 4 'me ea rehoa lebitso IT15. Lefu lena le bakoa ke phetoho ea liphatsa tsa lefutso tse laolang tlhahiso ea protheine ea huntingtin. Ts'ebetso e nepahetseng ea protheine ena e ntse e sa tsejoe, empa rea ​​tseba hore phetoho ea liphatsa tsa lefutso e etsa hore e be chefo: e etsa hore ho be le li-deposit bohareng ba boko, hantle ka har'a khubu ea methapo ea caudate, ebe ea cerebral cortex. Leha ho le joalo, ho lokela ho hlokomeloa hore lefu la Huntington ha le amahanngoa ka mokhoa o hlophisitsoeng le IT15 'me le ka bakoa ke ho fetola liphatsa tsa lefutso tse ling. (1)

Boloetse ba Huntington bo ka fetisoa ho tloha molokong o mong ho ea ho o mong (o bitsoa "autosomal dominant") mme kotsi ea ho fetisoa ho bana ke e le 'ngoe ho tse peli.

Tlhahlobo ea lefutso ea lefu lena ho batho ba kotsing (ba nang le histori ea lelapa) e ka khoneha, empa e laoloa haholo ke setsebi sa bongaka, hobane phello ea tlhahlobo ha e na liphello tsa kelello.

Tlhahlobo ea bakhachane le eona e ka khoneha, empa e thehiloe ka thata ke molao, hobane e hlahisa lipotso tsa bioethics. Leha ho le joalo, ’mè ea nahanang ho ntša boimana ka boithatelo haeba lesea la hae le ka pōpelong le na le lefutso le fetotsoeng o na le tokelo ea ho kōpa tlhahlobo ena ea pelehi.

Ho fihlela joale, ha ho na phekolo ea phekolo 'me phekolo ea matšoao feela e ka imolla motho ea kulang le ho liehisa ho senyeha ha bona' meleng le kelellong: lithethefatsi tsa psychotropic ho fokotsa mathata a kelello le liketsahalo tsa ho tepella maikutlong tse atisang ho tsamaisana le lefu lena. ; lithethefatsi tsa neuroleptic ho fokotsa motsamao oa choreic; ho tsosolosoa ka mokhoa oa physiotherapy le phekolo ea ho bua.

Patlo ea liphekolo tsa kamoso e lebisitsoe ho fetisetsoang li-neuron tsa fetal e le ho tsitsisa tšebetso ea methapo ea boko. Ka 2008, bafuputsi ba Pasteur Institute le CNRS ba ile ba paka bokhoni ba boko ba ho itokisa ka ho tseba mohloli o mocha oa tlhahiso ea neuron. Se sibolotsoeng sena se hlahisa tšepo e ncha bakeng sa phekolo ea lefu la Huntington le maemo a mang a bokooa a methapo, a kang lefu la Parkinson. (2)

Liteko tsa kalafo ea liphatsa tsa lefutso le tsona li ntse li tsoela pele linaheng tse 'maloa' me li tsamaea ka litsela tse 'maloa, e' ngoe ea tsona e le ho thibela polelo ea lefutso la ho tsoma le fetotsoeng.