Chirwere chaHuntington chirwere chemajini uye chakagarwa nhaka neurodegenerative. Nekuparadza neurons mune dzimwe nzvimbo dzehuropi, zvinokonzeresa zvakanyanya mota uye zvepfungwa kusagadzikana uye zvinogona kutungamirira mukurasikirwa kwakakwana kwekuzvitonga uye kufa. Jini rine kuchinjwa kunokonzera chirwere ichi rakazivikanwa muma90s, asi hosha yaHuntington hairapiki nanhasi. Inobata munhu mumwechete muvanhu gumi muFrance, iyo inomiririra vangangoita zviuru zvevarwere.

Ichiri dzimwe nguva ichinzi "Huntington's chorea" nekuti chiratidzo chechirwere ichi kufamba kusingaite (kunonzi choreic) kunokonzera. Zvisinei, vamwe varwere havapo ne choreic disorders uye zviratidzo zvechirwere zvakapararira: kune izvi zvirwere zvepfungwa zvinowanzowedzerwa zvirwere zvepfungwa uye maitiro. Izvi zvirwere zvepfungwa zvinowanzoitika pakutanga kwechirwere (uye dzimwe nguva zvinoonekwa zvisati zvaitika motokari) zvinogona kutungamirira kudhementi uye kuzviuraya. Zviratidzo zvinowanzoonekwa zvakapoteredza 40-50 yemakore, asi maitiro ekutanga uye ekupedzisira echirwere anoonekwa. Ziva kuti vese vatakuri veiyo mutated gene rimwe zuva vanozivisa chirwere.

Chiremba weAmerica, George Huntington, akatsanangura chirwere chaHuntington muna 1872, asi kusvika muna 1993 ndipo pakazivikanwa geni rinokonzera. Yakaiswa panzvimbo paruoko rupfupi rwechromosome 4 uye yakatumidzwa IT15. Chirwere ichi chinokonzerwa nekushanduka kwejene iri rinotonga kugadzirwa kweprotein yehuntingtin. Basa chairo reprotein iyi harisati razivikanwa, asi tinoziva kuti genetic mutation inoita kuti ive muchetura: inokonzera madhipoziti pakati pehuropi, zvakanyanya munucleus ye neurons ye caudate nucleus, ipapo yecerebral cortex. Nekudaro, zvinofanirwa kucherechedzwa kuti hosha yaHuntington haina kurongeka yakabatana neIT15 uye inogona kukonzerwa nekuchinja mamwe majini. (1)

Chirwere chaHuntington chinogona kutapurirwa kubva kune chimwe chizvarwa kuenda kune chimwe chizvarwa (chinonzi "autosomal dominant") uye njodzi yekutapurira mwana ndeye imwe paviri.

Kuongororwa kwemajini echirwere muvanhu vari panjodzi (vane nhoroondo yemhuri) inogoneka, asi inotariswa zvakanyanya nenyanzvi yezvokurapa, nekuti mhedzisiro yekuongororwa haina mhedzisiro yepfungwa.

Kuongororwa kwepamuviri kunogoneka zvakare, asi kwakanyatso kurongeka nemutemo, nekuti inomutsa mibvunzo yebioethics. Zvisinei, amai vari kufunga nezvokubvisa pamuviri nokuzvidira muchiitiko chokuti mwana wavo achangoberekwa akatakura majini akachinjwa ane kodzero yokukumbira kuongororwa kwavanenge vaberekwa.

Kusvika iye zvino, hapana kurapa kwekurapa uye chete kurapwa kwezviratidzo kunogona kusunungura munhu anorwara uye kunonoka kuderera kwavo kwepanyama uye kwepfungwa: psychotropic mishonga yekuderedza zvirwere zvepfungwa uye zvikamu zvekuora mwoyo zvinowanzoenda pamwe chete nechirwere. ; neuroleptic mishonga kuderedza choreic kufamba; kugadzirisa kuburikidza ne physiotherapy uye kutaura kurapa.

Kutsvaga marapirwo emunguva yemberi kunonangidzirwa kune kuisirwa kwefetus neurons kuitira kudzikamisa mafambiro emota yehuropi. Muna 2008, vaongorori kubva kuPasteur Institute neCNRS vakaratidza kugona kwehuropi kuzvigadzirisa nekuona kwainobva kutsva kwekugadzira neuron. Kuwanikwa uku kunomutsa tariro itsva yekurapwa kwechirwere cheHuntington uye mamwe mamiriro euoodegenerative, akadai sechirwere cheParkinson. (2)

Gene therapy miedzo iri kuitikawo munyika dzinoverengeka uye iri kufamba munzira dzakati wandei, imwe yacho kuvharidzira kutaura kweiyo mutated huntingtin gene.