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。498Please respect copyright.ＰＥＮＡＮＡUUczJp1heW
498Please respect copyright.ＰＥＮＡＮＡ6Hv3Yr3svC
498Please respect copyright.ＰＥＮＡＮＡzLUmJF1npY
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。498Please respect copyright.ＰＥＮＡＮＡdkidVTSw9r
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。498Please respect copyright.ＰＥＮＡＮＡ2g3rvHCqKA
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。498Please respect copyright.ＰＥＮＡＮＡEWB40jVImz
498Please respect copyright.ＰＥＮＡＮＡvjfzokk87J
（圖2）Globin蛋白是構成紅血球的主要蛋白質，共有α、β、 γ三種。498Please respect copyright.ＰＥＮＡＮＡwYjEhsoeaT
498Please respect copyright.ＰＥＮＡＮＡPrOVhv5T4y
498Please respect copyright.ＰＥＮＡＮＡDdy5xwagJI
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。498Please respect copyright.ＰＥＮＡＮＡ1h4ltufVjZ
498Please respect copyright.ＰＥＮＡＮＡTVda3GOWQS
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。498Please respect copyright.ＰＥＮＡＮＡoWBwrYAPJa
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。498Please respect copyright.ＰＥＮＡＮＡmD32AQMsS3
498Please respect copyright.ＰＥＮＡＮＡyBSFcsuRTd
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。498Please respect copyright.ＰＥＮＡＮＡB4eTUYDrl7
498Please respect copyright.ＰＥＮＡＮＡZlKU6dVKfw
（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。498Please respect copyright.ＰＥＮＡＮＡfKiGINsChx
498Please respect copyright.ＰＥＮＡＮＡ7ezFhtFndw
498Please respect copyright.ＰＥＮＡＮＡxr8sKO9DQ1
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?498Please respect copyright.ＰＥＮＡＮＡPcurnJYQRW
498Please respect copyright.ＰＥＮＡＮＡEcEJw0RdWa
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。498Please respect copyright.ＰＥＮＡＮＡ8TSyvpMfM7
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)。498Please respect copyright.ＰＥＮＡＮＡ6IhMmbiiBF
498Please respect copyright.ＰＥＮＡＮＡnUYGZBdCzc
CRISPR基因編輯技術延伸閱讀：498Please respect copyright.ＰＥＮＡＮＡ0Y15jw1UAe
https://www.penana.com/article/465369498Please respect copyright.ＰＥＮＡＮＡNdBzdx57mg
https://www.penana.com/article/465345498Please respect copyright.ＰＥＮＡＮＡKtXuUm9q8U
498Please respect copyright.ＰＥＮＡＮＡ65SB1Himnn
（圖4）整個過程的簡要為：498Please respect copyright.ＰＥＮＡＮＡXoEsL1gHZu
498Please respect copyright.ＰＥＮＡＮＡpOrABr0Gfz
498Please respect copyright.ＰＥＮＡＮＡqIUBVEc5Cp
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。498Please respect copyright.ＰＥＮＡＮＡwYPpDeGSwX
在實驗室內，利用CRISPR技術對製作BCL11A蛋白質的基因進行切割，498Please respect copyright.ＰＥＮＡＮＡqeTjYGuJ50
大幅度減低造血幹細胞製作BCL11A蛋白質的能力。498Please respect copyright.ＰＥＮＡＮＡ47YR90Fncq
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。498Please respect copyright.ＰＥＮＡＮＡVaTjwsrTj7
498Please respect copyright.ＰＥＮＡＮＡrThL2VV6cg
（圖5）圖中分別為兩名病人手術後的數據。498Please respect copyright.ＰＥＮＡＮＡqzmSYYmi6u
498Please respect copyright.ＰＥＮＡＮＡ8UYRRLguFj
498Please respect copyright.ＰＥＮＡＮＡ3iOvR9XB91
藍色區域為2α2γ紅血球，綠色及紫色區域為2α2β紅血球。498Please respect copyright.ＰＥＮＡＮＡoBUBeVAcMl
498Please respect copyright.ＰＥＮＡＮＡUHoDAf5h7P
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。498Please respect copyright.ＰＥＮＡＮＡoD3gFYzWz8
498Please respect copyright.ＰＥＮＡＮＡxfOHPF7Of4
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。498Please respect copyright.ＰＥＮＡＮＡNGj4ZTWpF4
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。498Please respect copyright.ＰＥＮＡＮＡ88O4vOQ0Ox
498Please respect copyright.ＰＥＮＡＮＡyZjysGiX02
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。498Please respect copyright.ＰＥＮＡＮＡ5c0mw5uaMS
498Please respect copyright.ＰＥＮＡＮＡEEIceUUlXq
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。498Please respect copyright.ＰＥＮＡＮＡgGwapmOPoS
498Please respect copyright.ＰＥＮＡＮＡ4rpchFyA55
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/toc498Please respect copyright.ＰＥＮＡＮＡaqaVB1EhOW
498Please respect copyright.ＰＥＮＡＮＡymE6rsTpKV
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。498Please respect copyright.ＰＥＮＡＮＡl4vO8txVDd
498Please respect copyright.ＰＥＮＡＮＡbImnbFOu3h
Link:498Please respect copyright.ＰＥＮＡＮＡUZcicyqnWW
https://www.penana.com/user/27349/%E8%96%AF%E4%BB%94%E8%81%9E%E8%8C%B1%E8%8E%89/portfolio498Please respect copyright.ＰＥＮＡＮＡCVGc8hJCnN
498Please respect copyright.ＰＥＮＡＮＡbI2GbkXXzh
有興趣接收科學資訊的話，歡迎follow IG: potatopigtongue。498Please respect copyright.ＰＥＮＡＮＡOKCLs0rQxy
498Please respect copyright.ＰＥＮＡＮＡhaEiUykBO5
https://www.instagram.com/potatopigtongue/498Please respect copyright.ＰＥＮＡＮＡpZoypyupLY
498Please respect copyright.ＰＥＮＡＮＡSVnlpbLOXU
Ref1:https://www.nejm.org/doi/full/10.1056/NEJMoa2031054498Please respect copyright.ＰＥＮＡＮＡogt2HkY2GL
Penana
search
登入arrow_drop_down
註冊arrow_drop_down
