Anti C9ORF72 (Poly-GR) pAb (Rabbit, Antiserum)

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.

References:
1) David MA Mann, et al. Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neuron disease associated with expansions in C9ORF72. Acta Neuropathologica Communications (2013) 1:68. PMID 24252525 
2) Tan RH, et al. Cerebellar neuronal loss in als cases with ATXN2 intermediate repeat expansions. Ann Neurol. 2015 Nov 24. doi: 10.1002/ana.24565. PMID:26599997 
3) Davidson Y, et al. Neurodegeneration in Frontotemporal Lobar Degeneration and Motor Neuron Disease associated with expansions in C9orf72is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins. Neuropathol Appl Neurobiol. 2015 Nov 5. doi: 10.1111/nan.12292. PMID: 26538301 
4) Baborie A, et al. Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene. Neuropathol Appl Neurobiol. 2015 Aug;41(5):601-12. doi: 10.1111/nan.12178. Epub 2015 Apr 30. PMID: 25185840 
5) Davidson YS, et al. Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta Neuropathol Commun. 2014 Jun 20;2:70. doi: 10.1186/2051-5960-2-70. PMID: 24950788 
6) Konno T, et al. C9ORF72 repeat-associated non-ATG-translated polypeptides are distributed independently of TDP-43 in a Japanese patient with c9ALS. Neuropathol Appl Neurobiol. 2014 Oct;40(6):783-8. doi: 10.1111/nan.12157. No abstract available. PMID: 24861677