由韩国基础科学研究院突触脑功能障碍中心主任Eunjoon Kim领导的研究团队发现，通过阻断糖氨酸转运蛋白SLC6A20可以恢复NMDA受体功能，从而改善自闭症相关小鼠模型的社交、沟通和重复行为 [1]。该研究成果已发表在《自然通讯》2026年第17卷第1期 [1]。
研究采用的ASO（反义寡核苷酸）治疗在仅经历一次给药后，至少可维持8周的疗效 [1]。这一治疗在成年小鼠中表现出疗效，提示脑发育完成后NMDAR功能障碍仍然具有可治疗性 [1]。研究团队在携带SHANK2和SHANK3突变的人脑皮层类器官中进行了验证实验，取得了类似的积极结果 [1]。
Researchers have discovered that blocking the glycine transporter protein SLC6A20 can restore NMDA receptor function and improve social, communication, and repetitive behavior deficits in mouse models of autism spectrum disorder [1]. The therapeutic approach demonstrated lasting effectiveness when administered to adult mice, with a single antisense oligonucleotide (ASO) treatment remaining effective for at least eight weeks [1]. This finding suggests that dysfunction of NMDA receptors may remain treatable even after brain development is complete [1].
The research team, led by Eunjoon Kim, director of the Center for Synaptic Brain Dysfunction at the Institute for Basic Science in South Korea, also validated the treatment in human brain organoids carrying SHANK2 and SHANK3 mutations, achieving comparable therapeutic results [1]. The work indicates that targeting SLC6A20 represents a promising therapeutic avenue for autism and related neurodevelopmental disorders [1]. The findings were published in Nature Communications, Volume 17, Issue 1, in 2026 [1].