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原文
Cell· Seva Kashin, Won-Seok Lee, Tara M. McDonald, Kiely Morris, Robert E. Handsaker, Curtis J. Mello, Liv Spina, Nora M. Reed, Heather de Rivera, Sri Havya Jana, Marina Hogan, Sabina Berretta, Steven A. McCarroll·· 2 天前

体细胞DNA重复序列扩增在亨廷顿病皮层和纹状体神经元中引发不同但类似的变化

Somatic DNA-repeat expansions initiate distinct yet analogous changes in Huntington’s disease cortical and striatal neurons

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亨廷顿病皮层与纹状体神经元各自DNA重复扩增约至150个CAG时触发类似的细胞身份侵蚀与死亡程序。

摘要

Single-cell-resolution analysis of brain tissue in Huntington's disease (HD) reveals that cortical and striatal neurons pass through analogous biological changes, each initiated by a neuron's own expanding DNA repeat. In cortical neurons, as in striatal neurons, the DNA repeat expands somatically over decades (phases A and B) and becomes toxic at about 150 CAGs, initiating cell-identity erosion (phase C), the formation of nuclear inclusions of aggregated HTT protein, a derepression crisis (phase D), and then death of the neuron.

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来源:Cell · cell.com

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