碱基编辑：进展与治疗机遇。
Base editing: advances and therapeutic opportunities.
机构信息
Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla, CA, USA.
Synthetic Biology Department, Beam Therapeutics, Cambridge, MA, USA.
出版信息
Nat Rev Drug Discov. 2020 Dec;19(12):839-859. doi: 10.1038/s41573-020-0084-6. Epub 2020 Oct 19.
Abstract
Base editing - the introduction of single-nucleotide variants (SNVs) into DNA or RNA in living cells - is one of the most recent advances in the field of genome editing. As around half of known pathogenic genetic variants are due to SNVs, base editing holds great potential for the treatment of numerous genetic diseases, through either temporary RNA or permanent DNA base alterations. Recent advances in the specificity, efficiency, precision and delivery of DNA and RNA base editors are revealing exciting therapeutic opportunities for these technologies. We expect the correction of single point mutations will be a major focus of future precision medicine.
摘要
碱基编辑——在活细胞的 DNA 或 RNA 中引入单核苷酸变异（SNV）——是基因组编辑领域的最新进展之一。由于已知的致病性遗传变异约有一半是由于 SNV 引起的，因此碱基编辑通过暂时的 RNA 或永久的 DNA 碱基改变，为治疗许多遗传疾病提供了巨大的潜力。最近在 DNA 和 RNA 碱基编辑器的特异性、效率、精度和递送方面的进展，为这些技术带来了令人兴奋的治疗机会。我们预计，单一基因突变的纠正将是未来精准医学的一个主要重点。
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