ABCA1 missense mutations are associated with Lewy body dementia
Anindita Ray, Paolo Reho, Giancarlo Logroscino, Sami Barmada, Owen A Ross, Sonja W Scholz, International LBD Genomics Consortium · 2025
Read ABCA1 missense mutations are associated with Lewy body dementia by Anindita Ray, Paolo Reho, Giancarlo Logroscino, Sami Barmada, Owen A Ross, Sonja W Scholz, International LBD Genomics Consortium (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11710670.txt.
Description
Anindita Ray and co-authors, writing with the International LBD Genomics Consortium, hunt for rare gene variants behind Lewy body dementia, in a 2025 paper. This dementia is the second most common in the United States after Alzheimer's disease. Rare mutations in two fat-transport genes had already been tied to Alzheimer's, and the two diseases share much biology.
The team scanned genome data from 2,591 patients and 4,027 controls of European ancestry. Rare damaging changes in one gene, ABCA1, were enriched in patients, while the second gene showed no link. One variant stood out: it appeared in twelve patients and a single control, carrying much higher odds of disease, and it is already classed as harmful. Twenty-five related genes in the same fat-handling pathway showed no extra burden. The findings tie this lipid pathway to Lewy body dementia risk.
Catalog record
| CREATOR | Anindita Ray, Paolo Reho, Giancarlo Logroscino, Sami Barmada, Owen A Ross, Sonja W Scholz, International LBD Genomics Consortium |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 3 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |