Development of DNA-binding ligands detecting trinucleotide repeats

最近的分子遗传学研究表明，DNA三核苷酸重复序列的扩增会导致人类神经系统疾病，称为三核苷酸重复紊乱。不幸的是，没有有效的治疗方法来治疗这些疾病。在这项工作中，我们成功开发了荧光配体，用于 CCG 三核苷酸重复中的 C-C 错配检测，这些重复与脆弱位点 XE 相关的精神发育迟滞相关。预计这种结合三核苷酸重复的小分子的发现将为重复长度的智能诊断提供方法，并为开发有效的治疗剂提供合理的基础。

Recent molecular genetic studies have shown that expansion of DNA trinucleotide repeats cause human neurological diseases, which are called trinucleotide repeat disorder. Unfortunately, there are no effective therapeutic approaches for the treatment of these diseases. In this work, we have successfully developed fluorescent ligands for C-C mismatch detection in CCG trinucleotide repeats that are associated with fragile site XE-linked mental retardation. It is expected that the discovery of such small molecules that bind trinucleotide repeats would provide a method for the smart diagnosis of the repeated length and a rational basis for the development of effective therapeutic agents.