Liphuputso tse ncha tse tsoang Italy khahlano le lefu la Hurler
Lintho tse ncha tse sibollotsoeng tsa bongaka ho loantša lefu la Hurler
Hurler syndrome ke eng
E 'ngoe ea mafu a sa tloaelehang a ka hlahang ho bana ke Lefu la Hurler, e tsejoang ka botekgeniki e le “mofuta oa mukopolisaccharidosis 1H“. Lefu lena le sa tloaelehang le ama Ngoana a le 1 ho ba bang le ba bang ba 100,000 tsoalo e ncha. E kenyelletsa khaello ea enzyme e itseng e ikarabellang bakeng sa ho theola tsoekere e itseng, li-glycosaminoglycans. Ho bokellana ha tsoekere ena ho baka tšenyo ea lisele, ho senya kholo le nts'etsopele ea kelello ea bana.
Ka bomalimabe, phello e mpe, ’me lefu le ka hlaha qalong ea bocha, haholo-holo ka lebaka la mathata a pelo kapa a ho hema.
Boemo bo bocha ba bongaka
E se e le ka 2021, lipatlisiso tse tsoang ho Setsi sa San Raffaele Telethon bakeng sa Gene Therapy e ne e bontšitse liphetho tse khothatsang. Mokhoa ona o kenyelletsa ho fana ka mofuta o lokisitsoeng oa tlhaiso-leseling e hlokahalang ho hlahisa enzyme e sieo.
Ntho e ikhethang ea phekolo ke ho sebelisa, nakong ea ho fetola lisele tsa mokuli tsa hematopoietic stem, s.likokoana-hloko tse tsoang ho HIV, kokoana-hloko e bakang AIDS. Hoa lokela ho hlokomeloa hore ka ho eketsehileng, likaroloana tse nyenyane tsa tatellano ea pele li ntse li sebelisoa tšimong ea phekolo ea lefutso bakeng sa maloetse a sa tloaelehang.
Boithuto bo bocha bo phatlalalitsoeng koranteng ea JCI Insight, e entsoeng ke bafuputsi ba machaba tlas'a tataiso ea Sapienza University of Rome le Tettamanti Foundation ea Monza, ka menehelo e tsoang ho Irccs San Gerardo dei Tintori Foundation ea Monza le Univesithi ea Milano-Bicocca, e lumeletse ho thehoa ha laboratori. organoid ea lesapo, mofuta o nolofalitsoeng le o nang le mahlakore a mararo a lesela le etsang masapo le lefufuru ’meleng oa motho.
Sena se tla fola leseli le lecha ka lefu la Hurler.
O ile a buisana le Ansa, Lingaka Serafini 'me Riminucci, bangoli-'moho ba thuto le Samantha Donsante oa Sapienza le Alice Pievani oa Tettamanti Foundation e le baemeli ba etellang pele, ba boletse hore pōpo ea organoid ena e ke ke ea bula feela. menyako e mecha ea ho sebetsana le lefu la Hurler empa hape ho tebisa lipatlisiso mabapi le phekolo ea mafu a mang a tebileng a lefutso.
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