Iziphumo ezitsha ezivela eItali ngokuchasene ne-Hurler syndrome
Ukufunyanwa okutsha kwezonyango okubalulekileyo ukulwa ne-Hurler syndrome
Yintoni i-Hurler syndrome
Esinye sezifo ezinqabileyo ezinokuthi zenzeke kubantwana Hurler syndrome, ngobuchule eyaziwa ngokuba “uhlobo lwe-mucopolysaccharidosis 1H“. Esi sifo sinqabileyo sichaphazela Umntwana omnye kwabayi-1 ukuzalwa okutsha. Ibandakanya ukunqongophala kwe-enzyme ethile enoxanduva lokuthoba iswekile ethile, glycosaminoglycans. Ukuqokelela kwezi swekile kubangela umonakalo weselula, ukuphazamisa ukukhula kunye nophuhliso lwengqondo yabantwana.
Ngelishwa, isiphumo sibi, kwaye ukufa kunokuthi kwenzeke kwangethuba lokufikisa, ngakumbi ngenxa yeengxaki zentliziyo okanye zokuphefumla.
Imeko entsha yezonyango
Sele ngo-2021, uphando oluvela kwi San Raffaele Telethon Institute for Gene Therapy ibonise iziphumo ezithembisayo. Lo mkhuba ubandakanya ukubonelela ngenguqu echanekileyo yolwazi lofuzo oluyimfuneko ukuvelisa i-enzyme engekhoyo.
Ubunzulu bonyango buxhomekeke ekusebenziseni, kwinkqubo yokuguqula iiseli zesilonda ze-hematopoietic zesigulana,iiVectors ezivela kwi-HIV, intsholongwane ebangela uGawulayo. Kufuneka kuqatshelwe ukuba ngokwandayo, iinxalenye ezincinci zokulandelelana kwasekuqaleni zisetyenziswa kwintsimi yonyango lwemfuza yezifo ezinqabileyo.
Uphononongo olutsha olupapashwe kwijenali yeJCI Insight, olwenziwa ngabaphandi bamazwe ngamazwe phantsi kolawulo lweYunivesithi yaseSapienza yaseRoma kunye neTettamanti Foundation yaseMonza, kunye neminikelo evela kwi-Irccs San Gerardo dei Tintori Foundation yaseMonza kunye neYunivesithi yaseMilano-Bicocca, ivumele ukudalwa kwebhubhoratri. i-organoid yethambo, inguqu eyenziwe lula kunye ne-three-dimensional ye-tissue eyenza amathambo kunye ne-cartilage emzimbeni womntu.
Oku kuya kudlula ukukhanya okutsha kwi-Hurler syndrome.
Udliwano-ndlebe no-Ansa, oogqirha ISerfini kwaye Riminucci, ababhali ababambeneyo bophononongo kunye noSamantha Donsante waseSapienza kunye no-Alice Pievani weTettamanti Foundation njengabasayiniweyo abakhokelayo, bathi ukudalwa kwale organoid akuyi kuvula kuphela. iingcango ezintsha zokujongana ne-Hurler syndrome kodwa wenze nzulu uphando malunga ne unyango lwezinye izifo ezinzulu zofuzo.
imithombo