Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study

After age, polymorphisms of the Apolipoprotein E (APOE) gene are the biggest risk factor for the development of Alzheimer’s disease (AD). During our investigation to discovery biomarkers in plasma, using 2D gel electrophoresis, we found an individual with and unusual apoE isoelectric point compared...

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Autores principales: Roberts, Blaine R., Laffoon, Scott B., Roberts, Anne M., Porter, Tenielle, Fowler, Chris, Masters, Colin L., Dratz, Edward A., Laws, Simon M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9986708/
https://www.ncbi.nlm.nih.gov/pubmed/36891255
http://dx.doi.org/10.3233/ADR-220075
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author Roberts, Blaine R.
Laffoon, Scott B.
Roberts, Anne M.
Porter, Tenielle
Fowler, Chris
Masters, Colin L.
Dratz, Edward A.
Laws, Simon M.
author_facet Roberts, Blaine R.
Laffoon, Scott B.
Roberts, Anne M.
Porter, Tenielle
Fowler, Chris
Masters, Colin L.
Dratz, Edward A.
Laws, Simon M.
author_sort Roberts, Blaine R.
collection PubMed
description After age, polymorphisms of the Apolipoprotein E (APOE) gene are the biggest risk factor for the development of Alzheimer’s disease (AD). During our investigation to discovery biomarkers in plasma, using 2D gel electrophoresis, we found an individual with and unusual apoE isoelectric point compared to APOE ɛ2, ɛ3, and ɛ4 carriers. Whole exome sequencing of APOE from the donor confirmed a single nucleotide polymorphism (SNP) in exon 4, translating to a rare Q222K missense mutation. The apoE ɛ4 (Q222K) mutation did not form dimers or complexes observed for apoE ɛ2 & ɛ3 proteins.
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spelling pubmed-99867082023-03-07 Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study Roberts, Blaine R. Laffoon, Scott B. Roberts, Anne M. Porter, Tenielle Fowler, Chris Masters, Colin L. Dratz, Edward A. Laws, Simon M. J Alzheimers Dis Rep Short Communication After age, polymorphisms of the Apolipoprotein E (APOE) gene are the biggest risk factor for the development of Alzheimer’s disease (AD). During our investigation to discovery biomarkers in plasma, using 2D gel electrophoresis, we found an individual with and unusual apoE isoelectric point compared to APOE ɛ2, ɛ3, and ɛ4 carriers. Whole exome sequencing of APOE from the donor confirmed a single nucleotide polymorphism (SNP) in exon 4, translating to a rare Q222K missense mutation. The apoE ɛ4 (Q222K) mutation did not form dimers or complexes observed for apoE ɛ2 & ɛ3 proteins. IOS Press 2023-02-24 /pmc/articles/PMC9986708/ /pubmed/36891255 http://dx.doi.org/10.3233/ADR-220075 Text en © 2023 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Communication
Roberts, Blaine R.
Laffoon, Scott B.
Roberts, Anne M.
Porter, Tenielle
Fowler, Chris
Masters, Colin L.
Dratz, Edward A.
Laws, Simon M.
Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study
title Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study
title_full Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study
title_fullStr Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study
title_full_unstemmed Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study
title_short Discovery of a Missense Mutation (Q222K) of the APOE Gene from the Australian Imaging, Biomarker and Lifestyle Study
title_sort discovery of a missense mutation (q222k) of the apoe gene from the australian imaging, biomarker and lifestyle study
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9986708/
https://www.ncbi.nlm.nih.gov/pubmed/36891255
http://dx.doi.org/10.3233/ADR-220075
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