Kev tshawb pom tshiab los ntawm Ltalis tawm tsam Hurler syndrome
Kev tshawb pom tshiab tseem ceeb kho mob los tawm tsam Hurler syndrome
Hurler syndrome yog dab tsi
Ib yam kab mob tsawg tshaj plaws uas tuaj yeem tshwm sim hauv cov menyuam yaus yog Hurler mobtechnically hu ua "mucopolysaccharidosis hom 1H". Cov kab mob tsawg no cuam tshuam 1 tus menyuam hauv txhua 100,000 yug tshiab. Nws cuam tshuam rau qhov tsis muaj ib qho enzyme ua lub luag haujlwm rau degrading cov suab thaj tshwj xeeb, glycosaminoglycans. Kev sib sau ntawm cov suab thaj no ua rau cov cellular puas, cuam tshuam kev loj hlob thiab kev paub txog kev xav ntawm cov menyuam yaus.
Tu siab, qhov tshwm sim yog nefarious, thiab kev tuag tuaj yeem tshwm sim thaum ntxov thaum hluas, tshwj xeeb yog vim mob plawv lossis ua pa nyuaj.
Ib thaj chaw kho mob tshiab
Twb tau nyob rau hauv 2021, kev tshawb fawb los ntawm lub San Raffaele Telethon Lub Tsev Haujlwm rau Kev Kho Mob tau pom cov txiaj ntsig tau zoo. Qhov kev xyaum no suav nrog kev muab cov ntawv kho tshiab ntawm cov ntaub ntawv caj ces tsim nyog los tsim cov enzyme uas ploj lawm.
Qhov tshwj xeeb ntawm kev kho yog nyob rau hauv kev siv, nyob rau hauv tus txheej txheem ntawm kev hloov kho tus neeg mob lub hematopoietic qia hlwb,ome vectors muab los ntawm HIV, tus kab mob lub luag haujlwm rau AIDS. Nws yuav tsum raug sau tseg tias nce ntxiv, qee qhov me me ntawm cov txheej txheem qub yog siv rau hauv kev kho noob rau cov kab mob tsawg.
Ib txoj kev tshawb fawb tshiab luam tawm hauv phau ntawv journal JCI Insight, ua los ntawm cov kws tshawb fawb thoob ntiaj teb raws li kev taw qhia ntawm Sapienza University of Rome thiab Tettamanti Foundation ntawm Monza, nrog kev koom tes los ntawm Irccs San Gerardo dei Tintori Foundation ntawm Monza thiab University of Milano-Bicocca, tau tso cai rau kev sim tsim ntawm ib qho organoid ntawm pob txha, ib qho yooj yim thiab peb-dimensional version ntawm cov ntaub so ntswg uas tsim cov pob txha thiab pob txha mos nyob rau hauv tib neeg lub cev.
Qhov no yuav plam Lub teeb tshiab ntawm Hurler Syndrome.
Kev xam phaj los ntawm Ansa, kws kho mob Serafini thiab Riminucci, co-sau ntawm txoj kev tshawb no nrog Samantha Donsante ntawm Sapienza thiab Alice Pievani ntawm Tettamanti Foundation ua tus thawj coj kos npe, tau hais tias kev tsim cov organoid no yuav tsis qhib xwb. Lub qhov rooj tshiab los hais txog Hurler Syndrome tab sis kuj tob kev tshawb fawb mus rau lub kev kho mob ntawm lwm yam kab mob loj.
Qhov chaw