Cited by 1,513Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchAmyotrophic Lateral Sclerosis Research

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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

Mullan, Mike, Crawford, Fiona, Axelman, Karin, Houlden, Henry, Lilius, Lena, Winblad, Bengt, Lannfelt, Lars·1992·Nature Genetics

DOI 10.1038/ng0892-345

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Abstract

Mutations at codon 717 in exon 17 of the beta-amyloid precursor protein (APP) gene have previously been shown to segregate with early onset Alzheimer's disease in some families. We have identified a double mutation at codons 670 and 671 (APP 770 transcript) in exon 16 which co-segregates with the disease in two large (probably related) early-onset Alzheimer's disease families from Sweden. Two base pair transversions (G to T, A to C) from the normal sequence predict Lys to Asn and Met to Leu amino acid substitutions at codons 670 and 671 of the APP transcript. This mutation occurs at the amino terminal of beta-amyloid and may be pathogenic because it occurs at or close to the endosomal/lysosomal cleavage site of the molecule. Thus, pathogenic mutations in APP frame the beta-amyloid sequence.

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Authors: Mullan, M., Crawford, F., Axelman, K., Houlden, H., Lilius, L., Winblad, B., & Lannfelt, L.
Affiliations: University of South Florida (US)
Karolinska Institutet (SE)
St Mary's Hospital (GB)
ORCID: Crawford, Fiona
Houlden, Henry
Winblad, Bengt
Lannfelt, Lars
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1992-08
Volume: 1
Issue: 5
Pages: 345-347
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0892-345
OpenAlex: W2030641075
Cited by: 1,513
References: 22
Citations by year: 2026: 24 · 2025: 30 · 2024: 50 · 2023: 47 · 2022: 49 · 2021: 46 · 2020: 52 · 2019: 56 · 2018: 48 · 2017: 48 · 2016: 47 · 2015: 31 · 2014: 62 · 2013: 31 · 2012: 32
FWCI: 49.77
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
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 › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Keywords: Alzheimer's disease, APP gene, amyloid-beta, early-onset familial Alzheimer's disease, Swedish families
MeSH terms: Alzheimer Disease, Amino Acid Sequence, Base Sequence, Brain, Codon, Exons, Female, Humans, Genetic Linkage, Male, Middle Aged, Molecular Sequence Data, Oligodeoxyribonucleotides, Pedigree, Transcription, Genetic, Genetic Variation, Amyloid beta-Protein Precursor, Point Mutation

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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

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