Wang Xin-ning, Cui Li-ying
Department of Neurology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2012 Jun;34(3):286-92. doi: 10.3881/j.issn.1000-503X.2012.03.020.
TAR DNA binding protein-43(TDP-43) and fused in sarcoma/translocated in liposarcoma protein (FUS/TLS) have been found to be associated with two neurodegenerative diseases - amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations in TDP-43 and FUS/TLS lead to abnormal protein expressions, which result in altered RNA processing. The pathological changes of TDP-43 and FUS/TLS-associated ALS and FTD are similar. Although the interactions between ALS and FTD remain unknown, it is speculated that TDP-43 and FUS/TLS-associated neurodegenerative diseases may share similar pathogenesis.
已发现Tar DNA结合蛋白43（TDP - 43）和肉瘤融合/脂肪肉瘤易位蛋白（FUS/TLS）与两种神经退行性疾病——肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）相关。TDP - 43和FUS/TLS中的突变会导致蛋白质表达异常，进而导致RNA加工改变。TDP - 43和FUS/TLS相关的ALS和FTD的病理变化相似。尽管ALS和FTD之间的相互作用尚不清楚，但据推测，TDP - 43和FUS/TLS相关的神经退行性疾病可能具有相似的发病机制。
