Bryant, Autumn Cheyenne
(2024)
Genetics and Treatment of Early Onset Alzheimer's Disease.
Master Essay, University of Pittsburgh.
Abstract
Early-onset Alzheimer’s disease (EOAD) places a significant burden on families, caregivers, and patients. EOAD begins as young as 30 years old when patients are in the middle of their lives and disrupts their futures. The exact genetic background of EOAD remains a mystery, with just 10% of cases having known genetic causes from pathogenic APP, PSEN1, and PSEN2 mutations.1 We have conducted a literature review of the known genes implicated in EOAD, including APP, PSEN1, and PSEN2, as well as other candidate genes that have been seen in some individual families or cases of EOAD. Members of EOAD families with known mutations in APP, PSEN1, or PSEN2 can get genetic testing in preparation for their potential diagnoses. Identifying more genes whose mutations could be causative of EOAD is of public health importance because it will allow for more causative mutations available for testing, allowing individuals to prepare for the burden that will be placed on their families and caregivers. Notably, genes such as SORL1 are being identified in more and more EOAD families and are emerging as potential rare monogenic causes of EOAD. Many pathways are implicated in developing the hallmarks of disease – amyloid plaques and neurofibrillary tangles – and variants in genes across these pathways have been identified as potential risk variants. Treatments thus far have focused on amyloid plaques without large clinical benefit, creating a call for more focus on controlling the spread of neurofibrillary tangles. Identifying more implicated genes could provide the healthcare system and researchers with more information on the mechanism of disease and the ability to generate better treatments. Caregivers and families of patients feel most of the burden that comes with the diagnosis of EOAD. While patients suffer, they are the ones footing the healthcare bills and providing daily care while watching their loved ones deteriorate. Further research in this area will only serve to alleviate some of the stresses that come with the unanswered questions present in an Alzheimer’s disease diagnosis before the age of 60.
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Details
| Item Type: |
Other Thesis, Dissertation, or Long Paper
(Master Essay)
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| Status: |
Unpublished |
| Creators/Authors: |
| Creators | Email | Pitt Username | ORCID  |
|---|
| Bryant, Autumn Cheyenne | acb174@pitt.edu | acb174 | |
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| Contributors: |
| Contribution | Contributors Name | Email | Pitt Username | ORCID |
|---|
| Committee Chair | Kamboh, MI | kamboh@pitt.edu | KAMBOH | UNSPECIFIED | | Committee Member | Buchanich, JM | jeanine@pitt.edu | JEANINE | UNSPECIFIED |
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| ETD Committee: |
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| Date: |
13 May 2024 |
| Date Type: |
Completion |
| Defense Date: |
2024 |
| Access Restriction: |
No restriction; Release the ETD for access worldwide immediately. |
| Number of Pages: |
39 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Public Health > Public Health Genetics |
| Degree: |
MPH - Master of Public Health |
| Thesis Type: |
Master Essay |
| Refereed: |
Yes |
| Date Deposited: |
13 May 2024 18:55 |
| Last Modified: |
13 May 2024 18:55 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/45828 |
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