Cited by 1,478Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

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Familial Alzheimer's Disease–Linked Presenilin 1 Variants Elevate Aβ1–42/1–40 Ratio In Vitro and In Vivo

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Borchelt, David R., Thinakaran, Gopal, Eckman, Christopher B., Lee, Michael K., Davenport, Frances, Ratovitsky, Tamara, Prada, Cristian-Mihail, Kim, Grace, Seekins, Sophia, Yager, Debra, Slunt, Hilda H., Wang, Rong, Seeger, Mary, Levey, Allan I., Gandy, Samuel E., Copeland, Neal G., Jenkins, Nancy A., Price, Donald L., Younkin, Steven G., Sisodia, Sangram S.·1996·Neuron

DOI 10.1016/s0896-6273(00)80230-5

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Abstract

Mutations in the presenilin 1 (PS1) and presenilin 2 genes cosegregate with the majority of early-onset familial Alzheimer's disease (FAD) pedigrees. We now document that the Abeta1-42(43)/Abeta1-40 ratio in the conditioned media of independent N2a cell lines expressing three FAD-linked PS1 variants is uniformly elevated relative to cells expressing similar levels of wild-type PS1. Similarly, the Abeta1-42(43)/Abeta1-40 ratio is elevated in the brains of young transgenic animals coexpressing a chimeric amyloid precursor protein (APP) and an FAD-linked PS1 variant compared with brains of transgenic mice expressing APP alone or transgenic mice coexpressing wild-type human PS1 and APP. These studies provide compelling support for the view that one mechanism by which these mutant PS1 cause AD is by increasing the extracellular concentration of Abeta peptides terminating at 42(43), species that foster Abeta deposition.

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Authors: Borchelt, D. R., Thinakaran, G., Eckman, C. B., Lee, M. K., Davenport, F., Ratovitsky, T., Prada, C.-M., Kim, G., Seekins, S., Yager, D., Slunt, H. H., Wang, R., Seeger, M., Levey, A. I., Gandy, S. E., Copeland, N. G., Jenkins, N. A., Price, D. L., Younkin, S. G., & Sisodia, S. S.
Affiliations: Johns Hopkins University (US)
Mayo Clinic in Florida (US)
Rockefeller University (US)
Cornell University (US)
Emory University (US)
Frederick National Laboratory for Cancer Research (US)
Corresponding author: Sisodia, Sangram S.
ORCID: Borchelt, David R.
Thinakaran, Gopal
Lee, Michael K.
Wang, Rong
Levey, Allan I.
Jenkins, Nancy A.
Younkin, Steven G.
Sisodia, Sangram S.
Venue: Neuron
Publisher: Elsevier BV
Published: 1996-11
Volume: 17
Issue: 5
Pages: 1005-1013
ISSN: 0896-6273 (ISSN-L)
DOI: 10.1016/s0896-6273(00)80230-5
OpenAlex: W2095745901
Cited by: 1,478
References: 40
Citations by year: 2026: 2 · 2025: 20 · 2024: 28 · 2023: 23 · 2022: 26 · 2021: 32 · 2020: 45 · 2019: 27 · 2018: 26 · 2017: 51 · 2016: 47 · 2015: 43 · 2014: 42 · 2013: 43 · 2012: 53
FWCI: 53.49
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by-nc-nd
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by-nc-nd/4.0/ (vor, 1622 d)
Locations: Neuron (publishedVersion, cc-by-nc-nd)
PubMed (publishedVersion)
Funders: National Institute on Aging (AG05689, P50AG005146, F32AG005689, AG 05146)
National Institute of Neurological Disorders and Stroke (NS-20471)
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
Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
Keywords: familial Alzheimer's disease, presenilin 1, PS1 mutations, amyloid-beta 42, amyloid precursor protein, transgenic mice, N2a cells, conditioned medium, amyloid deposition
MeSH terms: Alzheimer Disease, Animals, Brain Chemistry, Humans, Membrane Proteins, Mice, Transgenic, Mutation, Neuroblastoma, Recombinant Fusion Proteins, Transfection, Tumor Cells, Cultured, Gene Expression, Amyloid beta-Protein Precursor, Culture Media, Conditioned, Mice, Presenilin-1

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Familial Alzheimer's Disease–Linked Presenilin 1 Variants Elevate Aβ1–42/1–40 Ratio In Vitro and In Vivo

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