该研究揭示了错配修复基因 Msh3 和 Pms1 在亨廷顿病小鼠模型强烈驱动了纹状体和皮层神经元中 CAG 重复的快速扩增，进而导致选择性病理，而敲除这两种基因能够显著缓解 CAG 扩增速率，改善亨廷顿病小鼠的病理和运动缺陷。

引言在人类基因组的浩瀚密码中,一段名为"Huntingtin(HTT)"的基因序列暗藏杀机。当这个基因上出现过多CAG三核苷酸重复时,就会引发被称为"亨廷顿舞蹈症(Huntington's ...

Huntington's disease is a neurodegenerative disorder that is usually fatal about 15 to 20 years after a patient is diagnosed. It is known ... | Genetics And Genomics ...

A new UCLA Health study has discovered in mouse models that genes associated with repairing mismatched DNA are critical in ...

The gene has a variably sized swath of one repeating codon, CAG, tucked into its sequence. People who inherit more than about 35 repeats are very likely to develop the disease in middle age ...

They found that mutated HTT undergoes a process called “somatic expansion,” by which the number of CAG repeats grows, particularly in neurons in the striatum of the brain. Once this number ...

The Huntington's mutation involves a stretch of DNA in the HTT gene in which a three-letter sequence of DNA, "CAG," is repeated at least 40 times, as opposed to the 15-35 repeats inherited by ...