Department of Neuropathology, Institute of Pathology, Medical and Health Science Centre, University of Debrecen, 4032 Debrecen, Nagyerdei krt. 98., Hungary ; Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, De Crespigny Park, London, SE5 8AF, UK.
Alzheimers Res Ther. 2012 Sep 26;4(5):37. doi: 10.1186/alzrt140. eCollection 2012.
Mutation in chromosome 9 open reading frame 72 (C9orf72) is a major genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), referred to as C9FTD/ALS. The function of the protein is currently unknown, and the pathomechanism of C9FTD/ALS remains to be elucidated. The study by Satoh and colleagues in the previous issue of Alzheimer's Research & Therapy presents important new findings on C9orf72 protein expression in neurodegenerative disorders along with characterization of C9orf72 antibodies.
染色体 9 开放阅读框 72 突变（C9orf72）是额颞叶痴呆（FTD）和肌萎缩侧索硬化症（ALS）的主要遗传原因，称为 C9FTD/ALS。该蛋白的功能目前尚不清楚，C9FTD/ALS 的发病机制仍有待阐明。Satoh 及其同事在之前一期的《阿尔茨海默病研究与治疗》中报告了关于神经退行性疾病中 C9orf72 蛋白表达的重要新发现，以及对 C9orf72 抗体的特征描述。
