Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
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BACKGROUND: Cases of Frontotemporal Lobar Degeneration (FTLD) and Motor Neurone Disease (MND) associated with expansions in C9ORF72 gene are characterised pathologically by the presence of TDP-43 negative, but p62 positive, inclusions in granule cells of the cerebellum and in cells of dentate gyrus and area CA4 of the hippocampus. RESULTS: We screened 84 cases of pathologically confirmed FTLD and 23 cases of MND for the presence of p62 positive inclusions in these three brain regions, and identified 13 positive cases of FTLD and 3 of MND. All cases demonstrated expansions in C9ORF72 by Southern blotting where frozen tissues were available. The p62 positive inclusions in both cerebellum and hippocampus were immunostained by antibodies to dipeptide repeat proteins (DPR), poly Gly-Ala (poly-GA), poly Gly-Pro (poly-GP) and poly Gly-Arg (poly-GR), these arising from a putative non-ATG initiated (RAN) sense translation of the GGGGCC expansion. There was also some slight, but variable, immunostaining with poly-AP antibody implying some antisense translation might also occur, though the relative paucity of immunostaining could reflect poor antigen avidity on the part of the antisense antibodies. Of the FTLD cases with DPR, 6 showed TDP-43 type A and 6 had TDP-43 type B histology; one had FTLD-tau with the pathology of corticobasal degeneration. There were no qualitative or quantitative differences in the pattern of immunostaining with antibodies to DPR, or p62, proteins between TDP-43 type A and type B cases. Ratings for frequency of inclusions immunostained by these poly-GA, poly-GP and poly-GR antibodies broadly correlated with those for immunolabelled by p62 antibody in all three regions. CONCLUSION: We conclude that DPR are a major component of p62 positive inclusions in FTLD and MND.
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DPR inclusions rarely co-label with TARDBP pathological inclusions and are mainly found in areas of the CNS that are not pathologically affected, arguing against a direct role for DPRs in neurodegeneration.
“On the other hand, DPR inclusions rarely co-label with TARDBP pathological inclusions and are mainly found in areas of the CNS that are not pathologically affected [171,174–177], arguing against a direct role for DPRs in neurodegeneration.”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [171]
Antibodies specific for each DPR stain SQSTM1-positive inclusions, suggesting that DPRs are targeted for clearance by the UPS and/or autophagy.
“Antibodies specific for each dipeptide repeat (DPR) also stain SQSTM1-positive inclusions, including the star-like inclusions unique to C9orf72-related disease, suggesting that DPRs are targeted for clearance by the UPS and/or autophagy [119,169–171] (Figure 1).”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [171]
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- Authors
- Mann, D. M., Rollinson, S., Robinson, A., Bennion Callister, J., Thompson, J. C., Snowden, J. S., Gendron, T., Petrucelli, L., Masuda-Suzukake, M., Hasegawa, M., Davidson, Y., & Pickering-Brown, S.
- Affiliations
- University of Manchester (GB)
- Mayo Clinic in Florida (US)
- Tokyo Metropolitan Institute of Medical Science (JP)
- Corresponding author
- Mann, David MA
- ORCID
- Venue
- Acta Neuropathologica Communications
- Published
- 2013-10-14
- Volume
- 1
- Issue
- 1
- Pages
- 68-68
- ISSN
- 2051-5960 (ISSN-L)
- PMC
- PMC3893586
- OpenAlex
- W2165213609
- Cited by
- 182
- References
- 50
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 12 · 2023: 10 · 2022: 15 · 2021: 13 · 2020: 15 · 2019: 14 · 2018: 15 · 2017: 22 · 2016: 15 · 2015: 19 · 2014: 26 · 2013: 1
- FWCI
- 12.90
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by
- Locations
- Acta Neuropathologica Communications (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- Wellcome Trust (089701)
- Alzheimer's Society
- Medical Research Council
- Japan Society for the Promotion of Science (23700433, 23240050)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Keywords
- dipeptide repeat proteins, C9orf72, frontotemporal lobar degeneration, motor neuron disease, TDP-43, cerebellum, hippocampus, granule cells, dentate gyrus, corticobasal degeneration, FTLD-tau
- MeSH terms
- C9orf72 Protein, Aged, Brain, Inclusion Bodies, Cytoplasm, Female, Humans, Male, Middle Aged, Neurons, Proteins, Blotting, Southern, Motor Neuron Disease, RNA-Binding Proteins, DNA Repeat Expansion, Frontotemporal Lobar Degeneration
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