Mouse Monoclonal C9orf72 Antibody

The C9orf72 antibody is a crucial tool in studying the genetic mutation associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The C9orf72 gene, located on chromosome 9. harbors a hexanucleotide repeat expansion (GGGGCC) in its non-coding region, which is the most common genetic cause of both ALS and FTD. This mutation leads to three potential pathogenic mechanisms: loss of C9orf72 protein function, accumulation of toxic RNA foci, and production of dipeptide repeat proteins (DPRs) via repeat-associated non-ATG (RAN) translation. Antibodies targeting C9orf72 or its associated DPRs (e.g., poly-GA, poly-GP, poly-PR) are widely used in research to detect pathological aggregates in patient tissues, cellular models, or animal studies. These antibodies help characterize the distribution of abnormal protein inclusions in neurons and glial cells, contributing to understanding neurodegeneration mechanisms. However, challenges persist in antibody specificity due to the repetitive nature of the sequences and cross-reactivity with other proteins. Recent studies also explore C9orf72's physiological roles in immune regulation and autophagy, with antibodies aiding in tracking protein expression changes in disease states. Ongoing efforts aim to improve antibody validation and develop therapeutic strategies targeting C9orf72-related pathology.