Amyloid and intracellular accumulation of BRI2

Holly Garringer, Neeraja Sammeta, Adrian Oblak, Bernardino Ghetti, Ruben Vidal

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Familial British dementia (FBD) and familial Danish dementia (FDD) are caused by mutations in the BRI2 gene. These diseases are characterized clinically by progressive dementia and ataxia and neuropathologically by amyloid deposits and neurofibrillary tangles. Herein, we investigate BRI2 protein accumulation in FBD, FDD, Alzheimer disease and Gerstmann-Sträussler-Scheinker disease. In FBD and FDD, we observed reduced processing of the mutant BRI2 pro-protein, which was found accumulating intracellularly in the Golgi of neurons and glial cells. In addition, we observed an accumulation of a mature form of BRI2 protein in dystrophic neurites, surrounding amyloid cores. Accumulation of BRI2 was also observed in dystrophic neurites of Alzheimer disease and Gerstmann-Sträussler-Scheinker disease cases. Although it remains to be determined whether intracellular accumulation of BRI2 may lead to cell damage in these degenerative diseases, our study provides new insights into the role of mutant BRI2 in the pathogenesis of FBD and FDD and implicates BRI2 as a potential indicator of neuritic damage in diseases characterized by cerebral amyloid deposition.

Original languageEnglish (US)
Pages (from-to)90-97
Number of pages8
JournalNeurobiology of Aging
Volume52
DOIs
StatePublished - Apr 1 2017

Fingerprint

Amyloid
Neurites
Alzheimer Disease
Neurofibrillary Tangles
Proteins
Amyloid Plaques
Ataxia
Neuroglia
Dementia
Neurons
Mutation
Familial Danish dementia
Familial British Dementia
Genes

Keywords

  • Alzheimer disease
  • Amyloid
  • BRI
  • Familial British dementia
  • Familial Danish dementia
  • Gerstmann-Sträussler-Scheinker disease

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Developmental Biology
  • Geriatrics and Gerontology
  • Clinical Neurology

Cite this

Amyloid and intracellular accumulation of BRI2 . / Garringer, Holly; Sammeta, Neeraja; Oblak, Adrian; Ghetti, Bernardino; Vidal, Ruben.

In: Neurobiology of Aging, Vol. 52, 01.04.2017, p. 90-97.

Research output: Contribution to journalArticle

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