Isifo sikaHuntington yisifo sofuzo futhi esizuzwe njengefa. Ngokuchitha ama-neuron ezindaweni ezithile zobuchopho, kubanga ukuphazamiseka okukhulu kwezimoto nezengqondo futhi kungaholela ekulahlekelweni okuphelele kokuzimela nokufa. Isakhi esinezinguquko ezibangela lesi sifo satholwa eminyakeni yama-90s, kepha isifo sikaHuntington aselapheki kuze kube namuhla. Ithinta umuntu oyedwa kwabayishumi eFrance, emele iziguli ezizungeze i-10.

Ngezinye izikhathi ibizwa nangokuthi “yiHuntington's chorea” ngoba uphawu olugqame kakhulu kulesi sifo ukunyakaza okungazibandakanyi (okubizwa ngokuthi yi-choreic) esisibangelayo. Kodwa-ke, ezinye iziguli azivezi ngezifo zokuchora futhi izimpawu zalesi sifo zibanzi: kulezi zinkinga zengqondo zivame ukungezwa ukuphazamiseka kwengqondo nokuziphatha. Lokhu kuphazamiseka kwengqondo okwenzeka kaningi ekuqaleni kwesifo (futhi kwesinye isikhathi kuvela ngaphambi kokuphazamiseka kwemoto) kungaholela ekuwohlokeni komqondo nokuzibulala. Izimpawu zivame ukuvela cishe eminyakeni engama-40-50 ubudala, kepha izinhlobo zesifo zakuqala futhi sekwephuzile ziyabonakala. Qaphela ukuthi bonke abathwali bohlobo oluguqukile ngelinye ilanga bamemezela lesi sifo.

Udokotela waseMelika uGeorge Huntington wachaza isifo sikaHuntington ngo-1872, kodwa kwaze kwaba ngo-1993 lapho kutholakala khona isakhi sofuzo. Yabekwa engalweni emfushane ye-chromosome 4 futhi yaqanjwa I-IT15. Lesi sifo sidalwa ukuguquka kwesakhi sofuzo okulawula ukukhiqizwa kweprotheni yokuzingela. Umsebenzi oqondile wale phrotheni awukaziwa, kepha siyazi ukuthi ukuguquka kofuzo kukwenza ube nobuthi: kubangela ukuthi kufakwe phakathi kobuchopho, ngokunembile kwi-nucleus ye-neurons ye-caudate nucleus, bese kuba yi-cerebral cortex. Kodwa-ke, kufanele kwaziwe ukuthi isifo sikaHuntington asixhumene ngokuhlelekile ne-IT15 futhi singabangelwa ukuguqula ezinye izakhi zofuzo. (1)

Isifo sikaHuntington singadluliselwa sisuka kwesinye isizukulwane siye kwesinye (sibizwa ngokuthi “i-autosomal evelele”) futhi ingozi yokudlulisela enzalweni ingomunye kwababili.

Ukuhlolwa kofuzo kwalesi sifo kubantu abasengozini (ngomlando womndeni) kungenzeka, kepha kugadwe kakhulu ngabezokwelapha, ngoba umphumela wokuhlolwa awunamphumela wengqondo.

Ukuxilongwa ngaphambi kokubeletha kungenzeka, kepha kuqiniswe umthetho, ngoba kuphakamisa imibuzo ye-bioethics. Kodwa-ke, umama ocabanga ukukhipha isisu ngokuzithandela uma kwenzeka ukuthi ingane yakhe ithwale isakhi sofuzo esishintshiwe unelungelo lokucela lokhu kutholakala kokubeletha.

Kuze kube manje, ayikho indlela yokwelapha ekwelashwayo futhi kuphela ukwelashwa kwezimpawu okunganciphisa umuntu ogulayo futhi kwehlise ukubola kwabo ngokomzimba nangokwengqondo: izidakamizwa ze-psychotropic zokudambisa ukuphazamiseka kwengqondo kanye neziqephu zokudangala ezivame ukuhambisana nalesi sifo. ; izidakamizwa ze-neuroleptic zokunciphisa ukunyakaza kwe-choreic; ukuvuselelwa ngokusebenzisa i-physiotherapy nokwelashwa kokukhuluma.

Ukuseshwa kwezindlela zokwelashwa zesikhathi esizayo kuqondiswe ekufakweni kwama-neurons wombungu ukuze kuzinze ukusebenza kwezimoto ebuchosheni. Ngo-2008, abacwaningi basePasteur Institute kanye ne-CNRS bafakazela ikhono lobuchopho lokuzilungisa ngokwabo ngokukhomba umthombo omusha wokukhiqizwa kwe-neuron. Lokhu kutholakala kukhulisa amathemba amasha okwelashwa kwesifo sikaHuntington nezinye izimo ezingenzanga izifo, njengesifo sikaParkinson. (2)

Izilingo zokwelashwa kwe-Gene nazo ziyaqhubeka emazweni amaningana futhi zihamba ngezindlela eziningi, esinye sazo ukuvimba ukubonakaliswa kofuzo olushintshiwe lokuzingela.