鐮刀型紅血球疾病Sickle Cell Disease (SCD)和輸血依賴型地中海貧血症Transfusion-dependent β-thalassemia (TDT)是兩款基因變異所致的遺傳病。463Please respect copyright.ＰＥＮＡＮＡczKu1LQB7x
463Please respect copyright.ＰＥＮＡＮＡKGpB312ED9
463Please respect copyright.ＰＥＮＡＮＡk0nJwOqQzz
這兩種遺傳病的患者，必須經常透過輸血來抵抗疾病牽伸出的各種問題。463Please respect copyright.ＰＥＮＡＮＡrxUySAqYn6
除為生活帶來不便外，經常輸血亦會導致血液的鐵含量增加，血鐵過高可引致器官衰竭。463Please respect copyright.ＰＥＮＡＮＡkX28sdw9xt
現時雖有各種手段可減低血液的鐵含量，但有不少患者依然受著血鐵過高引致的問題困擾。463Please respect copyright.ＰＥＮＡＮＡAr5cdeYQHf
463Please respect copyright.ＰＥＮＡＮＡPYekkjFDI2
（圖2）Globin蛋白是構成紅血球的主要蛋白質，共有α、β、 γ三種。463Please respect copyright.ＰＥＮＡＮＡJpf4lPrvyz
463Please respect copyright.ＰＥＮＡＮＡ2d9ry3QukN
463Please respect copyright.ＰＥＮＡＮＡSsZn1dMvuT
而βGlobin蛋白的基因變異就是造成SCD及TDT疾病的主因，導致紅血球沒法正常輸送氧氣到各身體部份。463Please respect copyright.ＰＥＮＡＮＡG50dNqdw7E
463Please respect copyright.ＰＥＮＡＮＡAMzFYBhKEz
當我們還在母體內的時候，紅血球是以兩條α兩條γ Globin蛋白的方式組成。463Please respect copyright.ＰＥＮＡＮＡqFezLKJlsi
但出世後的三個月左右，紅血球便會以兩條α兩條β Globin蛋白的方式組成，逐漸取代兩條α兩條γ。463Please respect copyright.ＰＥＮＡＮＡC6MGn7wR3Q
463Please respect copyright.ＰＥＮＡＮＡeeMkVpwxJ8
基於SCD及TDT的問題是出自在βGlobin蛋白上，所以患者嬰兒頭三個月的時候並不會出現病徵。463Please respect copyright.ＰＥＮＡＮＡYywd8J8vr4
463Please respect copyright.ＰＥＮＡＮＡDx0Sx4CSJF
（圖3）SCD及TDT的問題純粹是出自在βGlobin蛋白的變異，但他們的α及γGlobin蛋白實情是並沒有問題。463Please respect copyright.ＰＥＮＡＮＡ2BvWBJSrGu
463Please respect copyright.ＰＥＮＡＮＡc56rl70wxD
463Please respect copyright.ＰＥＮＡＮＡLBnv6aTKfj
如果能找出方法驅使他們的身體製作用α及γGlobin蛋白以成的紅血球，那豈不是治病良方?463Please respect copyright.ＰＥＮＡＮＡu7WUuvDo9X
463Please respect copyright.ＰＥＮＡＮＡT7w57KXuPl
各種證據均指出，促使紅血球以2α2β方式呈現是源自於一隻名為BCL11A的蛋白質。463Please respect copyright.ＰＥＮＡＮＡABvVRPQf0a
因此，科學家及醫生們嘗試利用CRISPR基因編輯技術整走BCL11A蛋白質，希望以2α2γ的方式根治為SCD及TDT疾病（Ref1)。463Please respect copyright.ＰＥＮＡＮＡIDAqWRc49v
463Please respect copyright.ＰＥＮＡＮＡf517DwJmIu
CRISPR基因編輯技術延伸閱讀：463Please respect copyright.ＰＥＮＡＮＡs7WdL1IiSr
https://www.penana.com/article/465369463Please respect copyright.ＰＥＮＡＮＡuHNBFHfyIb
https://www.penana.com/article/465345463Please respect copyright.ＰＥＮＡＮＡhyuXzDqxih
463Please respect copyright.ＰＥＮＡＮＡYmnlrWzPrU
（圖4）整個過程的簡要為：463Please respect copyright.ＰＥＮＡＮＡxDjQIMaeGI
463Please respect copyright.ＰＥＮＡＮＡxs74LwNWgp
463Please respect copyright.ＰＥＮＡＮＡjTYN53j8ZH
首先促使病人血液充滿製作血細胞的幹細胞，繼而從血液中提取適合的幹細胞。463Please respect copyright.ＰＥＮＡＮＡPGQqS7sZ5D
在實驗室內，利用CRISPR技術對製作BCL11A蛋白質的基因進行切割，463Please respect copyright.ＰＥＮＡＮＡmnzlDoYvmh
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。463Please respect copyright.ＰＥＮＡＮＡmjtknyiNV3
最後再將基因編輯過的造血幹細胞注入在病人已被醫藥方式清除大部份幹細胞的骨髓內。463Please respect copyright.ＰＥＮＡＮＡ22s64VhRak
463Please respect copyright.ＰＥＮＡＮＡ7fIRiibOhO
（圖5）圖中分別為兩名病人手術後的數據。463Please respect copyright.ＰＥＮＡＮＡbHbKE3tfJK
463Please respect copyright.ＰＥＮＡＮＡ3mksNqlsTs
463Please respect copyright.ＰＥＮＡＮＡwvA7VQL6h9
藍色區域為2α2γ紅血球，綠色及紫色區域為2α2β紅血球。463Please respect copyright.ＰＥＮＡＮＡEFMz22XaIr
463Please respect copyright.ＰＥＮＡＮＡOqTBsU5129
經過手術後， 2α2γ紅血球數量大升，而最振奮人心的是兩名病人手術後再也不用進行任何輸血(暫時所知時段為病人手術後的18個月)，其間的副作用一律均被順利治癒。463Please respect copyright.ＰＥＮＡＮＡvK14DUjYYZ
463Please respect copyright.ＰＥＮＡＮＡvnYBPQ7W3G
CRISPR技術一直有著垢病有機會對預期以外的基因進行編輯，但此研究並沒有觀察得到出現此情況。463Please respect copyright.ＰＥＮＡＮＡ3ic0aem5un
而陸續至少有六名病人進利了一模一樣的手術，暫時所得的數據與文章一致。463Please respect copyright.ＰＥＮＡＮＡupzPaR36sw
463Please respect copyright.ＰＥＮＡＮＡeXZslhHuqC
由此可以預見得到，CRISPR技術將會陸續成為醫治遺傳病的主流。463Please respect copyright.ＰＥＮＡＮＡEjHhM6VCHT
463Please respect copyright.ＰＥＮＡＮＡIjzDiGXKPc
如果想我快啲出文的話，請入去Penana網站科普專欄–薯不揀單俾一個like以及Bookmark，這對我非常之重要。463Please respect copyright.ＰＥＮＡＮＡvbG3OlsPe6
463Please respect copyright.ＰＥＮＡＮＡxzy1Ly7BAf
Link: https://www.penana.com/story/66244/%E7%A7%91%E6%99%AE%E5%B0%88%E6%AC%84-%E8%96%AF%E4%B8%8D%E6%8F%80%E5%96%AE/toc463Please respect copyright.ＰＥＮＡＮＡXlPZzED668
463Please respect copyright.ＰＥＮＡＮＡx3qzyXrn25
同時亦可以在Penana網站裡按「買一嚿/半嚿薯仔」，以課金的方式推動我繼續搜羅資料寫文，多謝。463Please respect copyright.ＰＥＮＡＮＡ3v6diMNQ7q
463Please respect copyright.ＰＥＮＡＮＡXyGBjsdOFI
Link:463Please respect copyright.ＰＥＮＡＮＡkyzCeVn3TK
https://www.penana.com/user/27349/%E8%96%AF%E4%BB%94%E8%81%9E%E8%8C%B1%E8%8E%89/portfolio463Please respect copyright.ＰＥＮＡＮＡw2rYJO8uEf
463Please respect copyright.ＰＥＮＡＮＡuy2ABRaAMS
有興趣接收科學資訊的話，歡迎follow IG: potatopigtongue。463Please respect copyright.ＰＥＮＡＮＡQx7kfjUfKe
463Please respect copyright.ＰＥＮＡＮＡwzm79Nq2iJ
https://www.instagram.com/potatopigtongue/463Please respect copyright.ＰＥＮＡＮＡBUf6VWHXsd
463Please respect copyright.ＰＥＮＡＮＡoNnjoaXbRp
Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054463Please respect copyright.ＰＥＮＡＮＡui0xnWsPRp
Penana
search
登入arrow_drop_down
註冊arrow_drop_down
