阿尔茨海默病、帕金森病等神经退行性疾病呈快速增长趋势，已成为严重的社会问题。近年来，肌萎缩性侧索硬化症(ALS)等顽固性神经系统疾病的致病基因被发现，为研究其发病机制开辟了新的途径。已有研究表明，特定蛋白质的聚集和积累导致神经毒性和病变的形成，但发病和进展机制尚不清楚。神经病理诊断和实验模型生物标志物是药物构建、药物发现和治疗发展所必需的。
2011年，在额颞叶变性(FTLD)和肌萎缩性侧索硬化症(ALS)患者中发现了C9orf72基因的六核苷酸扩增。病理上，小脑颗粒细胞、海马齿状回细胞和CA4区存在TDP-43阴性和p62阳性包涵体。据报道，这些包体包括二肽重复蛋白、poly- ga、poly- gr和poly GP，这些包体可能来自于GGGGCC扩展的非atg启动的意义翻译。我们的C9orf72抗体是免疫组化分析神经退行性疾病的有力工具。
Application: ELISA, IHC(p)
Clonality: Polyclonal
Host: Rabbit
Purification: Serum
Reactivity: Human
Neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease have been increasing rapidly and have become a serious social problem. In recent years, new causative genes have been discovered for amyotrophic lateral sclerosis (ALS) and other intractable neurological diseases opening new avenues for research on pathogenesis. It has been suggested that aggregation and accumulation of specific proteins cause neurotoxicity and the formation of lesions, but the onset and progression mechanisms are still unclear. Neuropathological diagnostic and experimental model biomarkers are needed for drug construction, drug discovery, and therapeutic development.
In 20111 hexanucleotide expansions in the C9orf72 gene were identified in patients with frontotemporal lobar degeneration (FTLD) and Amyotrophic Lateral Sclerosis (ALS). GGGGCC expansions are characterized pathologically by the presence of TDP-43 negative and p62 positive inclusions in granule cells of cerebellum and in cells of the dentate gyrus and CA4 area of the hippocampus. It was reported that these inclusions include dipeptide repeat proteins, poly-GA, poly-GR and poly GP, arising from a putative non-ATG initiated sense translation of the GGGGCC expansion. Our C9orf72 antibodies are powerful tools for IHC analysis of neurodegenerative diseases.