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。561Please respect copyright.PENANAOn042fvvtC561Please respect copyright.PENANA2PVTeld6Gb
561Please respect copyright.PENANAH3cJMc8ex0
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。561Please respect copyright.PENANAM8Sm8Brlsi
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。561Please respect copyright.PENANAI8VCFaMNs5
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。561Please respect copyright.PENANA5MIWwEO2uh
561Please respect copyright.PENANAHHolPmZxAu
(圖2)Globin蛋白是構成紅血球的主要蛋白質,共有α、β、 γ三種。561Please respect copyright.PENANAtLMlxmbYOa561Please respect copyright.PENANAhUwc52MN86
561Please respect copyright.PENANAsZdgK2KGDd
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。561Please respect copyright.PENANA2mhBNciPJq
561Please respect copyright.PENANAoXYDHBm1NB
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。561Please respect copyright.PENANACY0XLZBco2
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。561Please respect copyright.PENANAIPRg7WFTa0
561Please respect copyright.PENANAPbcUg53LKW
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。561Please respect copyright.PENANAtz3oLiqVA5
561Please respect copyright.PENANAIZrZ56hIDT
(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。561Please respect copyright.PENANA51LT22rM3V561Please respect copyright.PENANAO13gAGKrOC
561Please respect copyright.PENANAsmYUBY4caA
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?561Please respect copyright.PENANAM6eVfUQmOP
561Please respect copyright.PENANAVU017hzuhn
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。561Please respect copyright.PENANAeQKNtOmCib
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)。561Please respect copyright.PENANA2TYOBFxBH7
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CRISPR基因編輯技術延伸閱讀:561Please respect copyright.PENANArBOjO0VRq2
https://www.penana.com/article/465369561Please respect copyright.PENANANX4B6ilp1d
https://www.penana.com/article/465345561Please respect copyright.PENANAgaLVT69xQZ
561Please respect copyright.PENANAH1BxoRx7jm
(圖4)整個過程的簡要為:561Please respect copyright.PENANATmWgScljq5561Please respect copyright.PENANAMu54AIgZO1
561Please respect copyright.PENANAxUGv2SF5XD
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。561Please respect copyright.PENANAS1cy0fokSg
在實驗室內,利用CRISPR技術對製作BCL11A蛋白質的基因進行切割,561Please respect copyright.PENANAqKAfyXKOWY
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。561Please respect copyright.PENANA0YY6nkZsOr
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。561Please respect copyright.PENANAQ2ELXH0o72
561Please respect copyright.PENANA8i8iOpfvH2
(圖5)圖中分別為兩名病人手術後的數據。561Please respect copyright.PENANAKnVyEyjcrZ561Please respect copyright.PENANAjEZQPFCHOF
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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。561Please respect copyright.PENANAJdbu3fnQxI
561Please respect copyright.PENANABrJQYtwit1
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。561Please respect copyright.PENANALKrZAsHAQg
561Please respect copyright.PENANAPAqbp2uXpj
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。561Please respect copyright.PENANAoBdImMU7U3
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。561Please respect copyright.PENANAZTy5qvKy56
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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。561Please respect copyright.PENANATQ67E0tGHW
561Please respect copyright.PENANAjgofclrJiK
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。561Please respect copyright.PENANAgVXTNPs84Q
561Please respect copyright.PENANAp86dfsSrl3
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/toc561Please respect copyright.PENANAWxShMBFDGW
561Please respect copyright.PENANAMGTQ8EUzDt
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。561Please respect copyright.PENANA9NXKobxzla
561Please respect copyright.PENANArPulgMzVWr
Link:561Please respect copyright.PENANA7NyCPSiHhn
https://www.penana.com/user/27349/%E8%96%AF%E4%BB%94%E8%81%9E%E8%8C%B1%E8%8E%89/portfolio561Please respect copyright.PENANA5Pwxx8wNmC
561Please respect copyright.PENANAK0vz7m1f7E
有興趣接收科學資訊的話,歡迎follow IG: potatopigtongue。561Please respect copyright.PENANAERqgkdNhi6
561Please respect copyright.PENANAyJurDlg0W4
https://www.instagram.com/potatopigtongue/561Please respect copyright.PENANAS3KG3d2lw8
561Please respect copyright.PENANAdsmZAswsZs
Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054561Please respect copyright.PENANAooUVBJsOKV
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科普專欄–薯不揀單
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薯仔聞茱莉

篇 #130
深入淺出–CRISPR基因編輯技術醫治地中海貧血的成功例子
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