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A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
Open accessAbstract
Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder characterized by cataracts, deafness, progressive ataxia, and dementia. Neuropathological findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer's disease. N-terminal sequence analysis of isolated leptomeningeal amyloid fibrils revealed homology to ABri, the peptide originated by a point mutation at the stop codon of gene BRI in familial British dementia. Molecular genetic analysis of the BRI gene in the Danish kindred showed a different defect, namely the presence of a 10-nt duplication (795–796insTTTAATTTGT) between codons 265 and 266, one codon before the normal stop codon 267. The decamer duplication mutation produces a frame-shift in the BRI sequence generating a larger-than-normal precursor protein, of which the amyloid subunit (designated ADan) comprises the last 34 C-terminal amino acids. This de novo- created amyloidogenic peptide, associated with a genetic defect in the Danish kindred, stresses the importance of amyloid formation as a causative factor in neurodegeneration and dementia.
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“Disease-causing mutations result in the production of C-terminally extended 277 aa mutant BRI2 proteins, which are cleaved at the normal furin processing site to generate distinct 34 aa peptides (ABri in FBD and ADan in FDD) that accumulate in the brains of affected patients (Vidal et al., 1999(Vidal et al., , 2000)).”
From BRI2 (ITM2b) Inhibits A Deposition In Vivo (2008) · cites this paper as Vidal et al., 2000
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Towards a better understanding of the role of ITM2B in the retina
Wohlschlegel, J. (2020) · theses.fr (ABES) · doi:10.70675/e9519354z82f8z43afz8844zf09061d0db21
Protein misfolding and aggregation
Morgan, G. J. (2026) · Elsevier eBooks · doi:10.1016/b978-0-323-99507-8.00063-9
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Metadata
- Authors
- Vidal, R., Révész, T., Rostagno, A., Kim, E., Holton, J. L., Bek, T., Bojsen-Møller, M., Braendgaard, H., Plant, G., Ghiso, J., & Frangione, B.
- Affiliations
- Department of Pathology, New York University School of Medicine, New York 10016; Department of Neuropathology, Institute of Neurology, London, WC1N3BG United Kingdom; Departments of Ophthalmology, Neuropathology and Neurology, Århus University Hospital, Århus, DK8000 Denmark; and The National Hospital for Neurology and Neurosurgery, London, WC1N3BG United Kingdom
- Aarhus University (DK)
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2000-04-18
- Volume
- 97
- Issue
- 9
- Pages
- 4920-4925
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC18333
- OpenAlex
- W2137091415
- Cited by
- 300
- References
- 18
- Citations by year
- 2026: 1 · 2025: 8 · 2024: 7 · 2023: 8 · 2022: 15 · 2021: 16 · 2020: 13 · 2019: 8 · 2018: 10 · 2017: 9 · 2016: 14 · 2015: 19 · 2014: 11 · 2013: 9 · 2012: 8
- FWCI
- 9.41
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- National Institutes of Health (5r35ag010953-07)
- National Institute on Aging (R37AG005891, R01AG008721, AG-08721, AG10953, AG05891)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Internal Medicine › Amyloidosis: Diagnosis, Treatment, Outcomes
- Keywords
- familial Danish dementia, amyloid peptides, Adán, cerebral amyloid angiopathy, frameshift mutation, de novo mutations, neurodegeneration
- MeSH terms
- Amino Acid Sequence, Amyloid, Base Sequence, Dementia, Denmark, Female, Humans, Male, Membrane Glycoproteins, Membrane Proteins, Molecular Sequence Data, Pedigree, Temporal Lobe, Sequence Alignment, Sequence Homology, Amino Acid, 3' Untranslated Regions, Gene Duplication, White People, Adaptor Proteins, Signal Transducing
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