The loss‐of‐function variant in MFSD3 could play a crucial role in the pathogenesis of dementia with Lewy bodies
Tetsuaki Kimura, Mutsumi Suganuma, Kayoko Sawamura, Yuya Asanomi, Nobuyoshi Shimoda, Noboru Ogiso, Tohru Hosoyama, Shumpei Niida, Kouichi Ozaki, Daichi Shigemizu · 2025
Read The loss‐of‐function variant in MFSD3 could play a crucial role in the pathogenesis of dementia with Lewy bodies by Tetsuaki Kimura, Mutsumi Suganuma, Kayoko Sawamura, Yuya Asanomi, Nobuyoshi Shimoda, Noboru Ogiso, Tohru Hosoyama, Shumpei Niida, Kouichi Ozaki, Daichi Shigemizu (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-11710696.txt.
Description
Tetsuaki Kimura and co-authors (2025) investigate a gene variant that may help cause dementia with Lewy bodies, the most common degenerative dementia in older people after Alzheimer's. The disease mixes memory loss with visual hallucinations, Parkinson-like movement problems, and attention that fluctuates hourly. Three genes were already tied to it. The team's genome studies in Japanese patients flagged a variant in a gene, MFSD3, that disables the protein it codes for.
To learn what the variant does, they used CRISPR to install it in a neural stem cell line. They then examined the cells for changes that could explain the disease link. Showing a mechanism would move MFSD3 from association toward proven cause. It would hand researchers a model of one route into Lewy body dementia, and possibly a target. The paper helps convert gene hunts into biology.
Catalog record
| CREATOR | Tetsuaki Kimura, Mutsumi Suganuma, Kayoko Sawamura, Yuya Asanomi, Nobuyoshi Shimoda, Noboru Ogiso, Tohru Hosoyama, Shumpei Niida, Kouichi Ozaki, Daichi Shigemizu |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 2 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |