Nā ʻike hou mai Italia e kūʻē iā Hurler syndrome
ʻO nā mea lapaʻau koʻikoʻi hou e kūʻē i ka maʻi Hurler
He aha ka Hurler syndrome
ʻO kekahi o nā maʻi kakaʻikahi hiki ke loaʻa i nā keiki ʻO Hurler Syndrome, ʻike ʻia ʻo “mucopolysaccharidosis type 1H“. Hoʻopilikia kēia maʻi kakaʻikahi 1 keiki i kēlā me kēia 100,000 hānau hou. Loaʻa ia i ka nele o kahi enzyme pono e hoʻohaʻahaʻa i nā kō. glycosaminoglycans. ʻO ka hōʻiliʻili ʻana o kēia mau kōpaʻa ke kumu i ka pōʻino o ka cellular, hoʻololi i ka ulu a me ka hoʻomohala psycho-cognitive o nā keiki.
Eia naʻe, he ino ka hopena, a hiki i ka make ke hiki i ka wā ʻōpiopio, ʻoi loa ma muli o nā pilikia o ka naʻau a i ʻole ka hanu.
He ʻāina lapaʻau hou
Aia ma 2021, noiʻi mai ka San Raffaele Telethon Institute no Gene Therapy ua hōʻike i nā hopena maikaʻi. Hoʻopili kēia hana i ka hāʻawi ʻana i kahi mana hoʻoponopono o ka ʻike genetic e pono ai e hana i ka enzyme nalo.
ʻO ka ʻokoʻa o ka lāʻau lapaʻau aia i ka hoʻohana ʻana, i ke kaʻina hana o ka hoʻololi ʻana i nā pūnaewele hematopoietic stem o ka mea maʻi, skekahi mau vector i loaʻa mai ka maʻi HIV, ka ma'i ma'i no ka AIDS. Pono e hoʻomaopopo ʻia i ka hoʻonui ʻia ʻana, hoʻohana ʻia nā ʻāpana liʻiliʻi o ke kaʻina kumu mua i ke kahua o ka lāʻau lapaʻau no nā maʻi maʻi.
ʻO kahi noiʻi hou i paʻi ʻia ma ka puke pai ʻo JCI Insight, i alakaʻi ʻia e nā mea noiʻi honua ma lalo o ke alakaʻi ʻana a ke Kulanui o Sapienza o Roma a me ka Tettamanti Foundation o Monza, me nā haʻawina mai ka Irccs San Gerardo dei Tintori Foundation o Monza a me ke Kulanui o Milano-Bicocca, ua ʻae i ka hana ʻana o kahi hale hoʻokolohua. kino o ka iwi, he ʻano maʻalahi a ʻekolu-dimensional o ka ʻiʻo i hana i nā iwi a me ka cartilage i loko o ke kino kanaka.
E hāʻule kēia kukui hou ma ka ma'i Hurler.
Ninauia e Ansa, Kauka Serafini a Riminucci, nā hoa kākau o ke aʻo ʻana me Samantha Donsante o Sapienza lāua ʻo Alice Pievani o ka Tettamanti Foundation ma ke ʻano he alakaʻi pūlima, i ʻōlelo ʻia ʻaʻole e wehe wale ka hana ʻana o kēia organoid. nā puka hou e hoʻoponopono ai i ka maʻi Hurler akā hoʻohonu hoʻi i ka noiʻi ʻana i ka ka mālama ʻana i nā maʻi maʻi koʻikoʻi ʻē aʻe.
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