Presence of Alzheimer's disease variants in circular RNA of <i>PSEN1</i> and <i>PSEN2</i>
Circular RNAs (circRNAs) are emerging as a promising object of study in Alzheimer's disease (AD) pathogenesis. Expression differences in circRNAs have been correlated with disease; however, the presence of pathogenic variants has not been observed until now. Here, we examine circRNAs derived from two AD-related genes, presenilin 1 (<i>PSEN1</i>) and presenilin 2 (<i>PSEN2</i>), in the prefrontal cortex from individuals with familial AD, identifying four variants in circRNAs derived from <i>PSEN1</i> (I143T, S212Y, M146L) and <i>PSEN2</i> (N141I). The discovery of pathogenic variants in <i>PSEN1</i> and <i>PSEN2</i> circRNAs marks a first step in determining whether they play a role in AD etiology.
Authors
- Kathryn Gudsnuk (ORCID: https://orcid.org/0000-0002-1507-2379)
- C. Dirk Keene (ORCID: https://orcid.org/0000-0002-5291-1469)
- Meredith M. Course (ORCID: https://orcid.org/0000-0002-6412-4438)
- Suman Jayadev (ORCID: https://orcid.org/0000-0003-3164-9665)
- Paul N. Valdmanis (ORCID: https://orcid.org/0000-0001-8840-6969)
- Thomas D. Bird (ORCID: https://orcid.org/0000-0001-9598-3529)
- Tia M Peterson
- Ian P Johnson (ORCID: https://orcid.org/0000-0002-0834-7194)
Institutions
- Allen Institute for Brain Science (US)
- Colorado College (US)
- University of Washington (US)
- University of Washington Medical Center (US)
- VA Puget Sound Health Care System (US)
- Mental Illness Research, Education and Clinical Centers (US)
- Allen Institute (US)
Publication Details
- Journal
- Journal of Alzheimer s Disease
- Published
- 2025-06-16
- DOI
- https://doi.org/10.1177/13872877251350112
- Primary Topic
- Circular RNAs in diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Nancy and Buster Alvord Endowment
- Colorado College
- National Institute on Aging