Double Mutations in a Patient with Early-Onset Alzheimer’s Disease in Korea: An APP Val551Met and a PSEN2 His169Asn
Abstract
:1. Introduction
2. Results
2.1. Clinical Characterization
2.2. Genetic Analysis and In Silico Prediction
3. Discussion
4. Materials and Methods
4.1. DNA Purification and Genetic Analysis
4.2. In Silico Analyses
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Gene | Mutation | Family History | Functional Data | Clinical Phenotype | Ref. |
---|---|---|---|---|---|
APP | E380K | De novo | Likely damaging in PolyPhen-2 and SIFT | LOAD | [18] |
R468H | De novo | No changes in Aβ40 or Aβ42 production in cells | None | [21] | |
A479S | De novo | None | [22] | ||
R486W | Familial | Likely damaging by in silico algorithms | EOAD | [17] | |
K496Q | De novo | Slight increase in Aβ40 in cells | EOAD | [19] | |
A500T | De novo | No changes in Aβ40 or Aβ42 production in cells | - | [21] | |
Y538H | De novo | Decrease in Aβ40 and Aβ42 in cells | LOAD | [20] | |
V562I | - | Slight decrease in Aβ40 secretion | - | [20] |
Country | Sex | APOE Type | Family History | Age of Onset | First Clinical Symptom | Brain Imaging | Clinical Phenotype | Ref. |
---|---|---|---|---|---|---|---|---|
Korea | Female | ε3/3 | De novo | 50 | Memory loss | Atrophy and hypometabolism in the left temporal lobe | EOAD | [12] |
China | Female | ε3/4 | Familial | 68 | Memory loss | Bilateral temporal lobe atrophy; hypometabolism; positive PIB PET | LOAD | [13] |
Male | ε3/3 | De novo | 62 | Language difficulty and behavioral changes | Mild atrophy; hypometabolism; negative PIB PET | Frontotemporal dementia | [13] | |
- | ε3/3 | - | 64 | - | - | EOAD | [14] | |
Male | - | Familial | 63 | Memory loss | Temporal and bilateral hippocampal atrophy | EOAD | [15] |
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Bae, H.; Shim, K.H.; Yoo, J.; Yang, Y.-S.; An, S.S.A.; Kang, M.-J. Double Mutations in a Patient with Early-Onset Alzheimer’s Disease in Korea: An APP Val551Met and a PSEN2 His169Asn. Int. J. Mol. Sci. 2023, 24, 7446. https://doi.org/10.3390/ijms24087446
Bae H, Shim KH, Yoo J, Yang Y-S, An SSA, Kang M-J. Double Mutations in a Patient with Early-Onset Alzheimer’s Disease in Korea: An APP Val551Met and a PSEN2 His169Asn. International Journal of Molecular Sciences. 2023; 24(8):7446. https://doi.org/10.3390/ijms24087446
Chicago/Turabian StyleBae, Heewon, Kyu Hwan Shim, Jang Yoo, Young-Soon Yang, Seong Soo A. An, and Min-Ju Kang. 2023. "Double Mutations in a Patient with Early-Onset Alzheimer’s Disease in Korea: An APP Val551Met and a PSEN2 His169Asn" International Journal of Molecular Sciences 24, no. 8: 7446. https://doi.org/10.3390/ijms24087446