Okutholakele okusha okuvela e-Italy ngokumelene ne-Hurler syndrome
Okutholakele okusha okubalulekile kwezokwelapha ukulwa ne-Hurler syndrome
Iyini i-Hurler syndrome
Esinye sezifo ezingavamile ezingase zenzeke ezinganeni I-Hurler syndrome, ngobuchwepheshe eyaziwa ngokuthi “uhlobo lwe-mukopolysaccharidosis 1H“. Lesi sifo esingavamile siyathinta Ingane eyodwa kweziyi-1 ukuzalwa okusha. Kubandakanya ukuntuleka kwe-enzyme ethile ebangela ukwehlisa ushukela othize, ama-glycosaminoglycans. Ukunqwabelana kwalokhu shukela kubangela ukulimala kwamangqamuzana, kubeke engcupheni ukukhula nokuthuthukiswa kwengqondo yezingane.
Ngeshwa, umphumela uba mubi, futhi ukufa kungase kwenzeke ngesikhathi sokuthomba, ikakhulukazi ngenxa yezinkinga zenhliziyo noma zokuphefumula.
Isimo esisha sezokwelapha
Kakade ngo-2021, ucwaningo oluvela ku- I-San Raffaele Telethon Institute for Gene Therapy ibonise imiphumela ethembisayo. Lo mkhuba uhlanganisa ukuhlinzeka ngenguqulo elungisiwe yolwazi lofuzo oludingekayo ukuze kukhiqizwe i-enzyme engekho.
Okukhethekile kokwelashwa kusekusetshenzisweni, ohlelweni lokuguqula amangqamuzana e-hematopoietic stem esiguli,ama-ome vectors asuselwa ku-HIV, igciwane elibangela ingculaza. Kufanele kuqashelwe ukuthi ngokwandayo, izingxenye ezincane zokulandelana kwasekuqaleni zisetshenziswa emkhakheni wokwelashwa kwezakhi zofuzo ezifweni ezingavamile.
Ucwaningo olusha olushicilelwe kujenali i-JCI Insight, olwenziwa abacwaningi bamazwe ngamazwe ngaphansi kokuqondisa kweSapienza University of Rome kanye neTettamanti Foundation yaseMonza, ngeminikelo evela ku-Irccs San Gerardo dei Tintori Foundation yaseMonza kanye neNyuvesi yaseMilano-Bicocca, ivumele ukwakhiwa kwelabhorethri. i-organoid yethambo, inguqulo eyenziwe lula futhi enezinhlangothi ezintathu zezicubu ezakha amathambo noqwanga emzimbeni womuntu.
Lokhu kuzodlula ukukhanya okusha ku-Hurler syndrome.
Exoxa no-Ansa, Odokotela ISerfini futhi I-Riminucci, ababhali ababambisene bocwaningo no-Samantha Donsante we-Sapienza kanye no-Alice Pievani we-Tettamanti Foundation njengabasayini abaholayo, baveze ukuthi ukudalwa kwale-organoid ngeke kuvuleke kuphela. iminyango emisha yokubhekana ne-Hurler syndrome kodwa futhi ujulise ucwaningo mayelana ne ukwelashwa kwezinye izifo ezinzima zofuzo.
Imithombo