[Evaluation of amyloid-b by the E280A mutation in presenilin gene.]

[Evaluation of amyloid-b by the E280A mutation in presenilin gene.] Research Abstract Details 

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[Evaluation of amyloid-b by the E280A mutation in presenilin gene.] Abstract Text:

Introduction. The E280A mutation of the presenilin 1 gene has been found to be the most common associate in Alzheimers patients with a family history of this disease. Presenilin 1 is a critical component of the g-secretase complex and plays an essential role in the production of amyloid-beta peptide. This peptide has been strongly associated with the physiopathology of the disease. Objective. The E280A mutation in the presenilin 1 was investigated for increased production of amyloid-beta , as a response to gain in gamma-secretase function. Materials and methods. Levels of systemic amyloid-beta were measured with congo red staining and immuno-histochemistry of the tissues of affected cadavers, compared with non-affected cadavers. The 40 and 42 amino acid amyloid-beta levels were quantified by ELISA assay in CHO cell cultures. The amyloid precursor protein expressed by the cultures was detected by transfection with the cDNAs of presenilin 1 carrying the M146L, E280A, DE9 y L392V mutations. Results. Protein deposits were found in all tissues investigatged, but only a few with beta -amyloid deposition. No differences were observed in the amount or location of amyloid-beta between affected and unaffected cadavers. Not increase was noted in the production of amyloid-beta from the CHO cells transfected with cDNA from any of the mutations of presenilin 1. Conclusions. The E280A mutation in the presenilin 1 gene was not associated with the increased production of amyloid-beta in non-neuronal peripheral tissues, or in the in vitro model. This is in contrast to the expectation in a gamma-secretase gain of function.

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[Evaluation of amyloid-b by the E280A mutation in presenilin gene.] Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Biomédica : revista del Instituto Nacional de Salu

VOLUME: 27

Page Numbers: 372-84

Journal Abbreviation: Biomedica

ISSN: 0120-4157

DAY: 5

MONTH: Sep

YEAR: 2007

[Evaluation of amyloid-b by the E280A mutation in presenilin gene.] Information

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LANGUAGE: spa

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AFFILIATION: Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.

Country: Colombia

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MEDLINETA: Biomedica

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