Defective repair of neuronal activity-induced DNA double strand breaks: A novel pathogenic mechanism for neurodegeneration in ataxia-telangiectasia

点击翻译按钮获取中文摘要

The reason for degeneration of the hindbrain in patients with Ataxia-telangiectasia is unknown. Firing of neurons leads to breaks in the DNA that are normally repaired by ATM, the gene defective in Ataxia-telangiectasia, and failure to reset the system likely leads to abnormal gene expression and cell death. Here we use neuronal cell types derived from patient stem cells to elucidate how this novel disease mechanism may cause hindbrain degeneration and to test drugs that can overcome this.