Hexanucleotide repeat expansions in C9orf72 gene locus create double jeopardy, first by leading to DNA–RNA R-loops that spawn double-strand breaks and second by the synthesis of dipeptide repeats that hinder DNA repair. This two-pronged mechanism may explain neurodegeneration in amyotrophic lateral sclerosis and frontotemporal dementia.

中文翻译：

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DNA合约中的漏洞杀死了神经元

C9orf72基因位点中的六核苷酸重复序列扩增会造成双重危险，首先是导致产生双链断裂的DNA-RNA R环，其次是合成阻碍DNA修复的二肽重复序列。这种两方面的机制可能解释了肌萎缩性侧索硬化症和额颞痴呆的神经退行性变。