
Pathogenic amyloid-β peptide precursor (APP) mutations clustered around position 693 of APP-position 22 of the Aβ sequence--are commonly associated with congophilic amyloid angiopathy (CAA) and intracerebral hemorrhages. In contrast, the Osaka (E693Δ) intra-Aβ APP mutation shows a recessive pattern of inheritance that leads to AD-like dementia despite low brain amyloid on in vivo positron emission tomography imaging. Here, we investigated the effects of the Osaka APP mutation on Aβ accumulation and deposition in vivo using a newly generated APP transgenic mouse model (E22ΔAβ) expressing the Osaka mutation together with the Swedish (K670N/M671L) double mutation. E22ΔAβ mice exhibited reduced α-processing of APP and early accumulation of intraneuronal fibrillar Aβ oligomers associated with cognitive deficits. In line with our in vitro findings that recombinant E22Δ-mutated Aβ peptides form amyloid fibrils, aged E22ΔAβ mice showed extracellular CAA deposits in leptomeningeal cerebellar and cortical vessels. In vitro results from thioflavin T aggregation assays with recombinant Aβ peptides revealed a yet unknown antiamyloidogenic property of the E693Δ mutation in the heterozygous state and an inhibitory effect of E22Δ Aβ42 on E22Δ Aβ40 fibrillogenesis. Moreover, E22Δ Aβ42 showed a unique aggregation kinetics lacking exponential fibril growth and poor seeding effects on wild-type Aβ aggregation. These results provide a possible explanation for the recessive trait of inheritance of the Osaka APP mutation and the apparent lack of amyloid deposition in E693Δ mutation carriers.
Aging, onset alzheimers-disease, 2804 Cellular and Molecular Neuroscience, Plaque, Amyloid, Neurodegenerative, Alzheimer's Disease, in-vivo, Transgenic, 2738 Psychiatry and Mental Health, Amyloid beta-Protein Precursor, Mice, congophilic amyloid angiopathy, 2.1 Biological and endogenous factors, Psychology, intraneuronal A beta, Aetiology, Osaka mutation hereditary cerebral-hemorrhage, Plaque, precursor protein, Behavior, Animal, Age Factors, Brain, 11359 Institute for Regenerative Medicine (IREM), Alzheimer's disease, Neurological, Public Health and Health Services, Original Article, 2803 Biological Psychiatry, Osaka mutation, 570, Amyloid, mouse model, Clinical Sciences, 610, 610 Medicine & health, Mice, Transgenic, Rare Diseases, Alzheimer Disease, Acquired Cognitive Impairment, Animals, Behavior, secretase cleavage, Amyloid beta-Peptides, Animal, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Cerebral Amyloid Angiopathy, Disease Models, Animal, synaptic alteration, natural oligomers, alpha-secretase, Disease Models, Mutation, Dementia, central-nervous-system, APP
Aging, onset alzheimers-disease, 2804 Cellular and Molecular Neuroscience, Plaque, Amyloid, Neurodegenerative, Alzheimer's Disease, in-vivo, Transgenic, 2738 Psychiatry and Mental Health, Amyloid beta-Protein Precursor, Mice, congophilic amyloid angiopathy, 2.1 Biological and endogenous factors, Psychology, intraneuronal A beta, Aetiology, Osaka mutation hereditary cerebral-hemorrhage, Plaque, precursor protein, Behavior, Animal, Age Factors, Brain, 11359 Institute for Regenerative Medicine (IREM), Alzheimer's disease, Neurological, Public Health and Health Services, Original Article, 2803 Biological Psychiatry, Osaka mutation, 570, Amyloid, mouse model, Clinical Sciences, 610, 610 Medicine & health, Mice, Transgenic, Rare Diseases, Alzheimer Disease, Acquired Cognitive Impairment, Animals, Behavior, secretase cleavage, Amyloid beta-Peptides, Animal, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Cerebral Amyloid Angiopathy, Disease Models, Animal, synaptic alteration, natural oligomers, alpha-secretase, Disease Models, Mutation, Dementia, central-nervous-system, APP
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