Effects of the amyloid precursor protein Glu693-->Gln 'Dutch' mutation on the production and stability of amyloid beta-protein.

Hereditary cerebral haemorrhage with amyloidosis, Dutch type (HCHWA-D), is a cerebral amyloidosis characterized by prominent vascular deposits and fatal haemorrhages. The disorder is caused by a point mutation in codon 693 of the gene encoding the amyloid precursor protein (APP), resulting in a Glu-->Gln amino acid substitution at position 22 of the amyloid beta-protein (Abeta) region. The pathogenetic mechanisms of HCHWA-D are unknown but could involve alterations in the proteolytic processing of APP and in amyloid fibril formation. We examined Abeta production and stability by using cultu... Mehr ...

Verfasser: Watson, DJ
Selkoe, DJ
Teplow, DB
Dokumenttyp: Artikel
Erscheinungsdatum: 1999
Reihe/Periodikum: Biochemical Journal, vol 340 ( Pt 3), iss 3
Verlag/Hrsg.: eScholarship
University of California
Schlagwörter: Neurodegenerative / Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) / Brain Disorders / Aging / Alzheimer's Disease / Acquired Cognitive Impairment / Neurosciences / Dementia / Aetiology / 2.1 Biological and endogenous factors / Amino Acid Sequence / Amino Acid Substitution / Amyloid beta-Peptides / Amyloid beta-Protein Precursor / Amyloidosis / Cell Line / Cerebral Hemorrhage / Culture Media / Conditioned / Glutamic Acid / Glutamine / Humans / Molecular Sequence Data / Molecular Weight / Netherlands / Peptide Fragments / Precipitin Tests / Protein Processing / Post-Translational / Sequence Analysis / Sweden / Time Factors / amyloid / APP processing / familial Alzheimer's disease / fibrillogenesis / beta-protein / Chemical Sciences / Biological Sciences / Medical and Health Sciences / Biochemistry & Molecular Biology
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-26619505
Datenquelle: BASE; Originalkatalog
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Link(s) : https://escholarship.org/uc/item/40c2m1zw

Hereditary cerebral haemorrhage with amyloidosis, Dutch type (HCHWA-D), is a cerebral amyloidosis characterized by prominent vascular deposits and fatal haemorrhages. The disorder is caused by a point mutation in codon 693 of the gene encoding the amyloid precursor protein (APP), resulting in a Glu-->Gln amino acid substitution at position 22 of the amyloid beta-protein (Abeta) region. The pathogenetic mechanisms of HCHWA-D are unknown but could involve alterations in the proteolytic processing of APP and in amyloid fibril formation. We examined Abeta production and stability by using cultured human embryonic kidney 293 cells stably expressing wild-type or 'Dutch' APP. Radiosequencing and quantitative immunoprecipitation experiments showed that cells expressing Dutch APP secreted increased quantities of Abeta peptides beginning at Asp1, and of truncated peptides beginning at Val18 and Phe19. The ratio of levels of 4 kDa (Abeta) to 3 kDa (p3) peptides remained constant due to co-ordinate decreases in other peptide species. Novel truncated or elongated peptides were not observed. Pulse-chase experiments showed that the Dutch mutation did not affect the stability of the Abeta or p3 populations. These results are consistent with a disease process in which the Dutch mutation results in the production of Abeta peptides with enhanced propensities for fibrillogenesis, leading to accelerated vascular deposition and disease.