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。455Please respect copyright.ＰＥＮＡＮＡkh6IwFyDMH
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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。455Please respect copyright.ＰＥＮＡＮＡf1KRcnY8Tb
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。455Please respect copyright.ＰＥＮＡＮＡ6TS6BcNm3W
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。455Please respect copyright.ＰＥＮＡＮＡMcwS544KXt
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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。455Please respect copyright.ＰＥＮＡＮＡTns8s0avHN
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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。455Please respect copyright.ＰＥＮＡＮＡZZEXTvPIF7
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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。455Please respect copyright.ＰＥＮＡＮＡjmVyHSAUCp
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。455Please respect copyright.ＰＥＮＡＮＡtmR4KUEzV7
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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。455Please respect copyright.ＰＥＮＡＮＡL0LEi2idGn
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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。455Please respect copyright.ＰＥＮＡＮＡE3QvMlhPuV
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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?455Please respect copyright.ＰＥＮＡＮＡPoqXEdzAEb
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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。455Please respect copyright.ＰＥＮＡＮＡPeCk7oDMmC
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)。455Please respect copyright.ＰＥＮＡＮＡT3hYDZFJS4
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CRISPR基因編輯技術延伸閱讀：455Please respect copyright.ＰＥＮＡＮＡLf4gkAsPat
https://www.penana.com/article/465369455Please respect copyright.ＰＥＮＡＮＡj9JPEj4X8m
https://www.penana.com/article/465345455Please respect copyright.ＰＥＮＡＮＡXDewYeBl0g
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（圖4）整個過程的簡要為：455Please respect copyright.ＰＥＮＡＮＡrU9F9PwwPM
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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。455Please respect copyright.ＰＥＮＡＮＡG0QfdDB2Zr
在實驗室內，利用CRISPR技術對製作BCL11A蛋白質的基因進行切割，455Please respect copyright.ＰＥＮＡＮＡ3fEi3eRjxd
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。455Please respect copyright.ＰＥＮＡＮＡtGXTPYjmkH
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。455Please respect copyright.ＰＥＮＡＮＡTwHJQq9IfY
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（圖5）圖中分別為兩名病人手術後的數據。455Please respect copyright.ＰＥＮＡＮＡXttgP9f3MQ
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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。455Please respect copyright.ＰＥＮＡＮＡ7gEeT7AZC3
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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。455Please respect copyright.ＰＥＮＡＮＡapbnwNHcJy
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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。455Please respect copyright.ＰＥＮＡＮＡ3KdMZSMP7P
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。455Please respect copyright.ＰＥＮＡＮＡiSTDXB2ujP
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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。455Please respect copyright.ＰＥＮＡＮＡwwIWYHf03a
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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。455Please respect copyright.ＰＥＮＡＮＡNuikHuKfIe
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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/toc455Please respect copyright.ＰＥＮＡＮＡikngDsCLnm
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Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054455Please respect copyright.ＰＥＮＡＮＡRvZoQiNUku

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