科普專欄–薯不揀單 - 深入淺出–CRISPR基因編輯技術醫治地中海貧血的成功例子

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。565Please respect copyright.ＰＥＮＡＮＡCyAcGa8Zo4
565Please respect copyright.ＰＥＮＡＮＡ3OzLsuJWus
565Please respect copyright.ＰＥＮＡＮＡr5DJSfjQX9
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。565Please respect copyright.ＰＥＮＡＮＡPMRdTW5Tok
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。565Please respect copyright.ＰＥＮＡＮＡNDMfz86Mah
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。565Please respect copyright.ＰＥＮＡＮＡGg02Y8jhkp
565Please respect copyright.ＰＥＮＡＮＡ4VoL7Ok3j2
（圖2）Globin蛋白是構成紅血球的主要蛋白質，共有α、β、 γ三種。565Please respect copyright.ＰＥＮＡＮＡeMQVh22DaJ
565Please respect copyright.ＰＥＮＡＮＡIuxEiccj2l
565Please respect copyright.ＰＥＮＡＮＡmEVBYNF307
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。565Please respect copyright.ＰＥＮＡＮＡDTAR0iFALc
565Please respect copyright.ＰＥＮＡＮＡegsUa2pzEj
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。565Please respect copyright.ＰＥＮＡＮＡYjjWx4FagJ
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。565Please respect copyright.ＰＥＮＡＮＡo2hdyXe2pF
565Please respect copyright.ＰＥＮＡＮＡdzwRIkR8aq
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。565Please respect copyright.ＰＥＮＡＮＡlsu91GyL3q
565Please respect copyright.ＰＥＮＡＮＡ5fSX5xftJa
（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。565Please respect copyright.ＰＥＮＡＮＡYo06VJBC9v
565Please respect copyright.ＰＥＮＡＮＡLwtiOBv5jY
565Please respect copyright.ＰＥＮＡＮＡLzDgun4bfO
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?565Please respect copyright.ＰＥＮＡＮＡNpRx3HbcNR
565Please respect copyright.ＰＥＮＡＮＡluDdp1tzav
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。565Please respect copyright.ＰＥＮＡＮＡueCSNbW2ei
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)。565Please respect copyright.ＰＥＮＡＮＡ8xh047l7Zv
565Please respect copyright.ＰＥＮＡＮＡXLx5OlfpfN
CRISPR基因編輯技術延伸閱讀：565Please respect copyright.ＰＥＮＡＮＡJ9weQUOl5P
https://www.penana.com/article/465369565Please respect copyright.ＰＥＮＡＮＡ8mNASFy3ZZ
https://www.penana.com/article/465345565Please respect copyright.ＰＥＮＡＮＡkYIF4MjXPr
565Please respect copyright.ＰＥＮＡＮＡqX72X5HW8G
（圖4）整個過程的簡要為：565Please respect copyright.ＰＥＮＡＮＡfz40Vl35nE
565Please respect copyright.ＰＥＮＡＮＡuRBXPvRPCk
565Please respect copyright.ＰＥＮＡＮＡsKXFDQFB1e
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。565Please respect copyright.ＰＥＮＡＮＡsJ3xVgrWvV
在實驗室內，利用CRISPR技術對製作BCL11A蛋白質的基因進行切割，565Please respect copyright.ＰＥＮＡＮＡkySujBW0nO
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。565Please respect copyright.ＰＥＮＡＮＡfPPQ6onQ2V
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。565Please respect copyright.ＰＥＮＡＮＡGehnW5CJam
565Please respect copyright.ＰＥＮＡＮＡIAhGqtuZif
（圖5）圖中分別為兩名病人手術後的數據。565Please respect copyright.ＰＥＮＡＮＡwKX5Fx2KiW
565Please respect copyright.ＰＥＮＡＮＡDLRVU5mJuj
565Please respect copyright.ＰＥＮＡＮＡSvnzQYveLj
藍色區域為2α2γ紅血球，綠色及紫色區域為2α2β紅血球。565Please respect copyright.ＰＥＮＡＮＡ4fFzJg0lYn
565Please respect copyright.ＰＥＮＡＮＡDizOgrUpUP
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。565Please respect copyright.ＰＥＮＡＮＡZlRbB0s7hM
565Please respect copyright.ＰＥＮＡＮＡ8qAf1k5NwE
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。565Please respect copyright.ＰＥＮＡＮＡr5bCHux54O
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。565Please respect copyright.ＰＥＮＡＮＡLnioZrbeqM
565Please respect copyright.ＰＥＮＡＮＡaDD9cq5sBO
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。565Please respect copyright.ＰＥＮＡＮＡXyF5Nfa48R
565Please respect copyright.ＰＥＮＡＮＡHwuFlBy1Hs
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。565Please respect copyright.ＰＥＮＡＮＡsapcSIe6S3
565Please respect copyright.ＰＥＮＡＮＡ83bX3NP1Eg
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/toc565Please respect copyright.ＰＥＮＡＮＡjpC8wkfBKY
565Please respect copyright.ＰＥＮＡＮＡkonKpC5uRi
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。565Please respect copyright.ＰＥＮＡＮＡIurlNnb8Yd
565Please respect copyright.ＰＥＮＡＮＡCc1mKhknIJ
Link:565Please respect copyright.ＰＥＮＡＮＡ5WHPpSIeNt
https://www.penana.com/user/27349/%E8%96%AF%E4%BB%94%E8%81%9E%E8%8C%B1%E8%8E%89/portfolio565Please respect copyright.ＰＥＮＡＮＡc7pV2S4H3V
565Please respect copyright.ＰＥＮＡＮＡOW5woNBNeW
有興趣接收科學資訊的話，歡迎follow IG: potatopigtongue。565Please respect copyright.ＰＥＮＡＮＡL6RQZUQgs2
565Please respect copyright.ＰＥＮＡＮＡotyUepWeXM
https://www.instagram.com/potatopigtongue/565Please respect copyright.ＰＥＮＡＮＡoP2dqbQuRT
565Please respect copyright.ＰＥＮＡＮＡLS7YL6mMOK
Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054565Please respect copyright.ＰＥＮＡＮＡWnW9p6GJl1

ns216.73.216.237da2

介面主題:

字體大小:

行距:

段距:

自動加載下一章