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。575Please respect copyright.ＰＥＮＡＮＡM3oNpmQJpl
575Please respect copyright.ＰＥＮＡＮＡp3oWg2LHMg
575Please respect copyright.ＰＥＮＡＮＡRJhsmaUz4k
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。575Please respect copyright.ＰＥＮＡＮＡ2zZoqZgQ9T
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。575Please respect copyright.ＰＥＮＡＮＡ5xyJa22doa
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。575Please respect copyright.ＰＥＮＡＮＡpj2F2Zb74p
575Please respect copyright.ＰＥＮＡＮＡnvar0y8I54
（圖2）Globin蛋白是構成紅血球的主要蛋白質，共有α、β、 γ三種。575Please respect copyright.ＰＥＮＡＮＡwozMqiybBa
575Please respect copyright.ＰＥＮＡＮＡwuhIO7htIQ
575Please respect copyright.ＰＥＮＡＮＡXFR8aWBxv2
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。575Please respect copyright.ＰＥＮＡＮＡtHkOzO8bLY
575Please respect copyright.ＰＥＮＡＮＡfgYG9MYZH0
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。575Please respect copyright.ＰＥＮＡＮＡ7oFl5FcrZ9
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。575Please respect copyright.ＰＥＮＡＮＡZF5igZVbSH
575Please respect copyright.ＰＥＮＡＮＡQbNU8QEbmh
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。575Please respect copyright.ＰＥＮＡＮＡpruJkotSXt
575Please respect copyright.ＰＥＮＡＮＡyohUpxuXrC
（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。575Please respect copyright.ＰＥＮＡＮＡD2zYzJzDkH
575Please respect copyright.ＰＥＮＡＮＡe6CCWtN9et
575Please respect copyright.ＰＥＮＡＮＡEL3OC0aeei
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?575Please respect copyright.ＰＥＮＡＮＡk1bprfmgDY
575Please respect copyright.ＰＥＮＡＮＡ8WN1z0Bes4
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。575Please respect copyright.ＰＥＮＡＮＡnvEhCXOlhK
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)。575Please respect copyright.ＰＥＮＡＮＡ2VmEF0rPlI
575Please respect copyright.ＰＥＮＡＮＡagKrDOlv9U
CRISPR基因編輯技術延伸閱讀：575Please respect copyright.ＰＥＮＡＮＡDJ21oZ30hL
https://www.penana.com/article/465369575Please respect copyright.ＰＥＮＡＮＡisTkkOnN31
https://www.penana.com/article/465345575Please respect copyright.ＰＥＮＡＮＡV0nHkWB2Bu
575Please respect copyright.ＰＥＮＡＮＡW9slpPZNNQ
（圖4）整個過程的簡要為：575Please respect copyright.ＰＥＮＡＮＡpqpc73PduB
575Please respect copyright.ＰＥＮＡＮＡJEGavNo2lT
575Please respect copyright.ＰＥＮＡＮＡ97Bk3w3cGY
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。575Please respect copyright.ＰＥＮＡＮＡyZch56Zegj
在實驗室內，利用CRISPR技術對製作BCL11A蛋白質的基因進行切割，575Please respect copyright.ＰＥＮＡＮＡQjUNWS9w4k
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。575Please respect copyright.ＰＥＮＡＮＡRpgXXpucMc
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。575Please respect copyright.ＰＥＮＡＮＡe80DKkDKvC
575Please respect copyright.ＰＥＮＡＮＡJvjKSNe2jQ
（圖5）圖中分別為兩名病人手術後的數據。575Please respect copyright.ＰＥＮＡＮＡhiKEqILlLq
575Please respect copyright.ＰＥＮＡＮＡIxLCpAbwsn
575Please respect copyright.ＰＥＮＡＮＡqudOVSslAp
藍色區域為2α2γ紅血球，綠色及紫色區域為2α2β紅血球。575Please respect copyright.ＰＥＮＡＮＡENBWLAoiET
575Please respect copyright.ＰＥＮＡＮＡc7U1g9WoL9
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。575Please respect copyright.ＰＥＮＡＮＡ9MirQevdOu
575Please respect copyright.ＰＥＮＡＮＡhVOMpjl7Ya
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。575Please respect copyright.ＰＥＮＡＮＡbAvJ11SzAL
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。575Please respect copyright.ＰＥＮＡＮＡXCujbKtikn
575Please respect copyright.ＰＥＮＡＮＡPdxOUa9WbR
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。575Please respect copyright.ＰＥＮＡＮＡ5533MTPkKz
575Please respect copyright.ＰＥＮＡＮＡQZSMJC7H0c
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。575Please respect copyright.ＰＥＮＡＮＡyQRysh8NQQ
575Please respect copyright.ＰＥＮＡＮＡMaObdVlGC6
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/toc575Please respect copyright.ＰＥＮＡＮＡIXB6RkE7Ul
575Please respect copyright.ＰＥＮＡＮＡPNacdTjINp
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。575Please respect copyright.ＰＥＮＡＮＡIZ4cDzZmpE
575Please respect copyright.ＰＥＮＡＮＡR1JJJaRhX4
Link:575Please respect copyright.ＰＥＮＡＮＡBcGDittqqF
https://www.penana.com/user/27349/%E8%96%AF%E4%BB%94%E8%81%9E%E8%8C%B1%E8%8E%89/portfolio575Please respect copyright.ＰＥＮＡＮＡUSBB3X5nUb
575Please respect copyright.ＰＥＮＡＮＡn4UlMMcIrK
有興趣接收科學資訊的話，歡迎follow IG: potatopigtongue。575Please respect copyright.ＰＥＮＡＮＡsR6dqRqhpt
575Please respect copyright.ＰＥＮＡＮＡyiiZFovXBx
https://www.instagram.com/potatopigtongue/575Please respect copyright.ＰＥＮＡＮＡhQ8wbbjJPp
575Please respect copyright.ＰＥＮＡＮＡAvUfS0dOud
Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054575Please respect copyright.ＰＥＮＡＮＡHSuLrcA0ao
Penana
search
登入arrow_drop_down
註冊arrow_drop_down
