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。525Please respect copyright.ＰＥＮＡＮＡCGfjHZ89LV
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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。525Please respect copyright.ＰＥＮＡＮＡwFvxn6HSis
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。525Please respect copyright.ＰＥＮＡＮＡwovKiJOL1z
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。525Please respect copyright.ＰＥＮＡＮＡO09hIZQqoz
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（圖2）Globin蛋白是構成紅血球的主要蛋白質，共有α、β、 γ三種。525Please respect copyright.ＰＥＮＡＮＡw1lFiCigR2
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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。525Please respect copyright.ＰＥＮＡＮＡzbjrOb2CBz
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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。525Please respect copyright.ＰＥＮＡＮＡcryb6Ugg2L
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。525Please respect copyright.ＰＥＮＡＮＡnRCnLN0HnZ
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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。525Please respect copyright.ＰＥＮＡＮＡwGwWNfDr5q
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（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。525Please respect copyright.ＰＥＮＡＮＡrL6FuDCNiU
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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?525Please respect copyright.ＰＥＮＡＮＡtkp2s4HWg3
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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。525Please respect copyright.ＰＥＮＡＮＡq1PCQXwxN5
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)。525Please respect copyright.ＰＥＮＡＮＡ6FOj8RQNXB
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CRISPR基因編輯技術延伸閱讀：525Please respect copyright.ＰＥＮＡＮＡ9ejnBYUO16
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（圖4）整個過程的簡要為：525Please respect copyright.ＰＥＮＡＮＡ9pZLWfXFQ6
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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。525Please respect copyright.ＰＥＮＡＮＡoRwdCg3bro
在實驗室內，利用CRISPR技術對製作BCL11A蛋白質的基因進行切割，525Please respect copyright.ＰＥＮＡＮＡA7WSOGPkxS
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。525Please respect copyright.ＰＥＮＡＮＡvwRC4xWad9
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。525Please respect copyright.ＰＥＮＡＮＡeJ3XS30yEj
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（圖5）圖中分別為兩名病人手術後的數據。525Please respect copyright.ＰＥＮＡＮＡ7C539l8ujn
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藍色區域為2α2γ紅血球，綠色及紫色區域為2α2β紅血球。525Please respect copyright.ＰＥＮＡＮＡ6sSYU3js8T
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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。525Please respect copyright.ＰＥＮＡＮＡKKqNW5LWbt
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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。525Please respect copyright.ＰＥＮＡＮＡmbBDxBBgKA
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。525Please respect copyright.ＰＥＮＡＮＡ60QBR3uNs4
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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。525Please respect copyright.ＰＥＮＡＮＡVHvLuHKKjR
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Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054525Please respect copyright.ＰＥＮＡＮＡ1fVn9bXnYe

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