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Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
Abstract
A locus segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21, close to the amyloid precursor protein (APP) gene. Recombinants between the APP gene and the AD locus have been reported which seemed to exclude it as the site of the mutation causing familial AD. But recent genetic analysis of a large number of AD families has demonstrated that the disease is heterogeneous. Families with late-onset AD do not show linkage to chromosome 21 markers. Some families with early-onset AD show linkage to chromosome 21 markers, but some do not. This has led to the suggestion that there is non-allelic genetic heterogeneity even within early onset familial AD. To avoid the problems that heterogeneity poses for genetic analysis, we have examined the cosegregation of AD and markers along the long arm of chromosome 21 in a single family with AD confirmed by autopsy. Here we demonstrate that in this kindred, which shows linkage to chromosome 21 markers, there is a point mutation in the APP gene. This mutation causes an amino-acid substitution (Val----Ile) close to the carboxy terminus of the beta-amyloid peptide. Screening other cases of familial AD revealed a second unrelated family in which this variant occurs. This suggests that some cases of AD could be caused by mutations in the APP gene.
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In the citing paper
“FAD mutations in APP that cluster near the 𝛃 - and 𝛄 -secretase cleavage sites either elevate the production of total A 𝛃 , as is the case with the K670N/ M671L substitution [Swedish mutation (Mullan et al., 1992a)], or increase the generation of A 𝛃 42 specifically, as occurs with the I716V [Florida mutation (Eckman et al., 1997)] and V717I [London mutation (Goate et al., 1991)] substitutions.”
From Intraneuronal β-Amyloid Aggregates, Neurodegeneration, and Neuron Loss in Transgenic Mice with Five Familial Alzheimer's Disease Mutations: Potential Factors in Amyloid Plaque Formation (2006) · cites this paper as Goate et al., 1991
In the citing paper
“The 5XFAD mouse, along with the APPSLPS1KI, is one of a few known mouse models that exhibits significant neuron loss in addition to displaying other AD hallmarks such as amyloid plaques [10,11,16].”
From Neuron loss in the 5XFAD mouse model of Alzheimer’s disease correlates with intraneuronal Aβ42 accumulation and Caspase-3 activation (2013) · cites this paper as [10]
In the citing paper
“Frank neuron loss has been observed in two aggressive amyloid plaque transgenic mouse models that also exhibit accumulation of intraneuronal Aβ42 prior to plaque formation: the 5XFAD and APPSLPS1K1 lines [10,11].”
From Neuron loss in the 5XFAD mouse model of Alzheimer’s disease correlates with intraneuronal Aβ42 accumulation and Caspase-3 activation (2013) · cites this paper as [10]
In the citing paper
“Early onset Alzheimer's disease can be caused by mutations in the APP (Chartier-Harlin et al., 1991;Goate et al., 1991;Murrell et al., 1991;Mullan et al., 1992), presenilin 1 (PS1) (Sherrington et al., 1995), and presenilin 2 (PS2) (Levy-Lahad et al., 1995) genes.”
From Age-Dependent Changes in Brain, CSF, and Plasma Amyloid β Protein in the Tg2576 Transgenic Mouse Model of Alzheimer's Disease (2001) · cites this paper as Goate et al., 1991
In the citing paper
“The amyloid cascade hypothesis of Alzheimer disease (AD), which proposes that deposition of the amyloid-β (Aβ) peptide in the brain is a central event in disease pathology (Figure 1), is strongly supported by neuropathological and human genetic evidence”
From The amyloid hypothesis in Alzheimer disease: new insights from new therapeutics (2022) · cites this paper as [2]
In the citing paper
“Mutations in APP, presenilin 1 (PSEN1) and PSEN2 genes that increase Aβ production, elevate Aβ42/Aβ40 ratio and promote plaque formation cause autosomal dominant early-onset familial AD (FAD)”
From Amyloid β-based therapy for Alzheimer’s disease: Challenges, successes and future (2023) · cites this paper as [38]
In the citing paper
“Less than 1% of all AD cases are early-onset with symptoms developed at an age of 50 s and earlier, and caused by gene mutations in APP, PSEN1 or PSEN2.7,38,39”
From Amyloid β-based therapy for Alzheimer’s disease: Challenges, successes and future (2023) · cites this paper as [38]
In the citing paper
“This hypothesis gained favor in the 1990s after several gene mutations directly responsible for aberrant Aβ accumulation (APP, PSEN1, PSEN2) were found to underlie rare familial forms of early-onset AD [20–22].”
From Systems-based proteomics to resolve the biology of Alzheimer’s disease beyond amyloid and tau (2021) · cites this paper as [21]
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Metadata
- Authors
- Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., Mant, R., Newton, P., Rooke, K., Roques, P., Talbot, C., Pericak-Vance, M., Roses, A., Williamson, R., Rossor, M., Owen, M., & Hardy, J.
- Affiliations
- St Mary's Hospital (GB)
- Yale University (US)
- University of Wales (GB)
- Duke Medical Center (US)
- Venue
- Nature
- Published
- 1991-02-21
- Volume
- 349
- Issue
- 6311
- Pages
- 704-706
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2058723245
- Cited by
- 4,659
- References
- 30
- Citations by year
- 2026: 62 · 2025: 85 · 2024: 111 · 2023: 88 · 2022: 112 · 2021: 130 · 2020: 149 · 2019: 115 · 2018: 112 · 2017: 130 · 2016: 160 · 2015: 131 · 2014: 129 · 2013: 166 · 2012: 135
- FWCI
- 153.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- Wellcome Trust
- National Institute on Aging (AG05 128, P50AG005128)
- 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 › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- familial Alzheimer's disease, amyloid precursor protein gene, APP gene mutations, missense mutations, genetic heterogeneity, co-segregation, early-onset Alzheimer's disease, late-onset Alzheimer's disease, beta-amyloid peptide
- MeSH terms
- Alzheimer Disease, Amino Acid Sequence, Base Sequence, Chromosomes, Human, Pair 21, Exons, Genetic Testing, Genotype, Humans, Genetic Linkage, Molecular Sequence Data, Mutation, Pedigree, Protein Precursors, Polymorphism, Restriction Fragment Length, Polymerase Chain Reaction, Amyloid beta-Peptides, Amyloid beta-Protein Precursor
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