98%基因之謎破解：科學家揭示與阿茲海默症相關的「垃圾DNA」密碼
科學家最新發現，過往被稱為「垃圾DNA」的基因組大部分，實際上包含強大基因調控開關，能控制與阿茲海默症相關的腦細胞活動。新南威爾斯大學（UNSW）研究團隊在人體星形膠質細胞中，實驗測試近1000個DNA調控開關，成功辨識約150個真實影響基因表達的關鍵開關，當中不少與已知的阿茲海默症風險基因相關。此發現有助解釋為何許多疾病相關基因變異位於基因序列之外，並且所產生的數據集現正用於訓練人工智能（AI），提升基因調控預測的準確度。
星形膠質細胞與隱藏的DNA調控開關
一般人提及DNA，往往想像它是負責決定外貌、行為及細胞器官運作的基因序列，但基因只佔了約2%的DNA序列，餘下98%長期被稱為非編碼基因組或「垃圾DNA」。這部分其實包含大量調控開關，決定基因何時啟動及其表達力度。
UNSW悉尼團隊聚焦於星形膠質細胞（astrocytes），這種支持神經元的腦細胞與阿茲海默症密切相關。他們於2025年12月18日發表在《自然神經科學》（Nature Neuroscience）的研究中，利用實驗室培養的人類星形膠質細胞，測試接近1000個被稱為「增強子」（enhancers）的DNA調控序列。增強子可距離其調控的基因甚遠，甚至相隔數十萬個DNA鹼基，令研究難度大增。
結合CRISPRi與單細胞RNA測序同時測試近千個增強子
團隊運用CRISPR干擾技術（CRISPRi）關閉DNA片段而不切割，配合單細胞RNA測序技術，能在單次大規模實驗中觀察近千個增強子的基因調控效應。負責此研究的Nicole Green博士表示：「我們透過CRISPRi關閉星形膠質細胞中潛在的增強子，觀察其是否改變基因表達。若有改變，代表該增強子確實具功能，並可進一步確認其調控的基因。」最終約150個增強子被確認為功能性，且其中大部分控制的基因與阿茲海默症相關。
這項研究將搜尋範圍從1000個候選調控區縮小至150個，顯著提升非編碼基因組中與阿茲海默症相關遺傳線索的定位效率。研究監督教授Irina Voineagu指出：「類似研究也應拓展至其他腦細胞種類，以揭示非編碼DNA中更多功能性增強子。」
非編碼DNA在多種疾病中的重要性
Voineagu教授強調，這些「基因之間」的DNA區域對於解釋高血壓、糖尿病、精神及神經退行性疾病的遺傳改變尤為重要。過往許多疾病相關的基因變異都定位於基因之外的非編碼區域，團隊透過直接測試這些區域，證實了哪些增強子對關鍵腦基因具有調控作用。
她指出：「我們尚未談及治療，但若要開發治療方案，首先必須了解這些基因調控網絡的結構。這項成果讓我們得以更深入認識星形膠質細胞內的基因調控迴路。」
從基因開關到人工智能預測模型
此次在腦細胞中進行的CRISPRi大規模增強子篩選是首次嘗試，耗費大量時間與精力。研究團隊表示，完成此基礎工作後，所產生的數據集將用於訓練電腦模型，提升辨識真實增強子的準確性，節省未來實驗室工作。
Voineagu教授補充，Google旗下DeepMind團隊已利用該數據集評測其最新深度學習模型AlphaGenome的效能。
增強子研究對基因療法與精準醫療的潛力
由於增強子多為細胞類型特異性活躍，未來有望透過精準調控星形膠質細胞中的基因表達，而不影響神經元或其他腦細胞。Voineagu教授指出：「雖然距離臨床應用尚遠，且仍需大量後續研究，但已有先例。第一款獲批用於治療血液疾病鐮刀型貧血的基因編輯藥物，即針對細胞類型特異性的增強子。」
Green博士亦表示，增強子研究有潛力成為精準醫療的重要組成部分，「我們希望深入探索哪些增強子能精準控制特定腦細胞的基因開關，並以極為精細的方式進行調控。」
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編輯評論與深入分析
這項最新研究突破了過去對「垃圾DNA」的偏見，將長期被忽視的非編碼基因組變成解碼腦疾病的金鑰匙。特別是在阿茲海默症這類複雜神經退行性疾病中，基因變異多數不在編碼區，過去難以解釋其致病機制。UNSW團隊運用創新技術同時篩選近千個增強子，首次在星形膠質細胞這一關鍵腦細胞中，系統性確認其調控功能，為基因調控研究開啟新篇章。
這種結合CRISPRi與單細胞RNA測序的多重技術整合，展示了現代分子生物學突破傳統侷限的能力。更重要的是，該研究不僅限於學術探索，其產生的數據集兼具科研和商業價值，已被頂尖AI團隊用作訓練深度學習模型，預示未來AI將成為基因功能預測不可或缺的工具。
此外，研究強調細胞類型特異性的增強子調控，對精準醫療和基因療法具革命性意義。未來若能針對特定腦細胞調節基因表達，有望減少副作用，提升治療安全性和有效率。這與目前基因編輯技術在血液疾病的成功應用形成呼應，為神經退行性疾病治療帶來曙光。
然而，研究亦提醒我們，解碼基因調控網絡只是第一步，從基因調控到臨床應用仍需跨越諸多技術和倫理挑戰。尤其是腦細胞複雜多樣，未來需擴大至其他腦細胞類型，全面繪製基因調控地圖，才能真正推動阿茲海默症等疾病的精準治療。
總括而言，這項研究不僅為「垃圾DNA」重新定位價值，更為神經科學、基因編輯及人工智能的交叉應用樹立典範，展示未來生物醫學研究和醫療創新的廣闊前景。香港及全球科學界應密切關注此類跨領域整合的突破，從而推動本地相關研究發展，並為日益嚴重的老齡化社會挑戰尋找創新解決方案。
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"hair": "Her hair is sleek and ritual-polished, partially damp and slicked back at the crown, with soft wet strands framing her face naturally, reflecting candlelight.",
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