Discovery of a missense mutation (Q222K) of the APOE gene from the Australian imaging, biomarker and lifestyle study
Journal of Alzheimer's Disease Reports
Centre for Precision Health / School of Medical and Health Sciences
The Cooperative Research Centre for Mental Health, Alzheimer’s Drug Discovery Foundation grant (BRR, PI) / Knott Family Equipment Grant (BRR, PI) / Pierce Armstrong Trust (BRR, PI) / The Victorian Government’s Operational Infrastructure Support Program and the Wicking Trust / National Institutes of Health- Small Business Technology Transfer (NIH STTR grant 5R42RR021790, EAD PI) / Center for Biological Research Excellence (NIH CoBRE grants 1P20RR024237 and 2P20GM 104935, EAD PI) / Montana Board of Research and Commercialization Technology Grants: (MBRCT: 05–14, 06–46, and 08–17, EAD PI) / Murdock Charitable Trust (EAD, PI)
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 ϵ2, ϵ3, and ϵ4 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 ϵ4 (Q222K) mutation did not form dimers or complexes observed for apoE ϵ2 ϵ3 proteins.
We would like to acknowledge the Australian
Imaging and Biomarker, Lifestyle (AIBL) research
team (a complete list of researchers can be found at
www.aibl.csiro.au) as well as the volunteer subjects
and their families.
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Roberts, B. R., Laffoon, S. B., Roberts, A. M., Porter, T., Fowler, C., Masters, C. L., ... & Laws, S. M. (2023). Discovery of a missense mutation (Q222K) of the APOE gene from the Australian imaging, biomarker and lifestyle study. Journal of Alzheimer's Disease Reports, 7(1), 165-172. https://doi.org/10.3233/ADR-220075