Anti C9orf72 (Poly-GA)

Anti-C9ORF72 (Poly-GA) pAb — prepared from rabbits immunized with poly (GA)8 — recognizes poly (GA) dipeptide repeat proteins. Validated for ELISA and IHC(p), this antibody is useful for immunohistochemical and biochemical studies of C9ORF72 (Poly-GA) dipeptide species in diseased brains.

In 2011 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 the cerebellum and in cells of the dentate gyrus and CA4 area of the hippocampus. It was reported that these inclusions included dipeptide repeat proteins, poly-GA, poly-GR and poly-GP, arising from a putative non-ATG initiated sense translation of the GGGGCC expansion. These antibodies are powerful tools for IHC analysis of neurodegenerative diseases.

Specifications

• Product type                primary antibody
• Immunogen                 poly (GA)8
• Raised in                     rabbit
• Source                         anti-serum
• Form                           liquid anti-serum with 0.1% NaN3 as a preservative
• Volume                       50 uL
• Label                           unlabeled
• Specificity                   poly (GA)8
• Cross reactivity           human
• Storage                        below -20°C. (below -70°C for prolonged storage). Aliquot to avoid cycles of freeze/thaw.

Recommended dilutions

• ELISA                                     1/500-1/2000
• Immunohistochemistry           1/500-1/2000
• Other applications have not been tested
• Optimal dilutions/ concentrations should be determined by the end user.

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 C9orf72 is 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