The role of FUS gene variants in neurodegenerative diseases

摘要: The neurodegenerative diseases are a diverse group of disorders characterized by progressive loss specific groups neurons. These affect different populations, and have variable age onset, clinical symptoms, pathological findings. Variants in the FUS gene, which encodes an RNA-binding protein, been identified as causative or risk factors for amyotrophic lateral sclerosis (ALS), essential tremor rare forms frontotemporal lobar degeneration (FTLD). Additionally, abnormal aggregation protein has reported multiple diseases, including ALS, FTLD polyglutamine suggesting role pathogenesis these diseases. This Review summarizes current understanding normal function FUS, describes its pathology FTLD, other Comments on underlying pathogenetic mechanisms FUS-related included. Finally, implications recent advances research discussed. Further might lead to improvements treatment prevention disorders.