2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

Nonsense mutations are responsible for about 10% of all genetic diseases, and no dedicated treatment is available for patients. We show that 2,6-diaminopurine efficiently corrects UGA nonsense mutations, with no significant toxicity, by an original mode of action. We also show that 2,6-diaminopurine affect about 3% of the human genome expression.

无义突变（nonsense mutation）约占所有遗传性疾病的10%，目前尚无针对此类患者的专属治疗方案。本研究证实，2,6-二氨基嘌呤（2,6-diaminopurine）可通过一种全新的作用机制，高效校正UGA无义突变，且未表现出显著毒性。此外，本研究还发现，2,6-二氨基嘌呤可影响人类基因组中约3%的基因表达。