Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup
Antoni Vallbona-Garcia, Patrick J. Lindsey, Rick Kamps, Alphons P. M. Stassen, Nhan Nguyen, Florence H. J. van Tienen, Ilse H. J. Hamers, Rianne Hardij, Marike W. van Gisbergen, Birke J. Benedikter, Irenaeus F. M. de Coo, Carroll A. B. Webers, Theo G. M. F. Gorgels, Hubert J. M. Smeets · 2024
Read Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup by Antoni Vallbona-Garcia, Patrick J. Lindsey, Rick Kamps, Alphons P. M. Stassen, Nhan Nguyen, Florence H. J. van Tienen, Ilse H. J. Hamers, Rianne Hardij, Marike W. van Gisbergen, Birke J. Benedikter, Irenaeus F. M. de Coo, Carroll A. B. Webers, Theo G. M. F. Gorgels, Hubert J. M. Smeets (2024) 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-11182222.txt.
Description
Antoni Vallbona-Garcia and co-authors report a genetics study, published in 2024, on mitochondrial DNA in a common eye disease. Primary open-angle glaucoma slowly kills the nerve cells that carry vision, and those cells burn much energy, so faults in the mitochondria that power cells are a natural suspect. The team sequenced mitochondrial DNA from matched groups of patients and controls.
Groups covered high pressure and normal pressure glaucoma, people with high eye pressure but no disease, and cataract patients without glaucoma. Counts of variants in working genes did not differ between groups. In a control region called the D-loop, though, the high pressure group carried far more unique variants per person, hinting that this subgroup has a distinct mitochondrial signature.
Catalog record
| CREATOR | Antoni Vallbona-Garcia, Patrick J. Lindsey, Rick Kamps, Alphons P. M. Stassen, Nhan Nguyen, Florence H. J. van Tienen, Ilse H. J. Hamers, Rianne Hardij, Marike W. van Gisbergen, Birke J. Benedikter, Irenaeus F. M. de Coo, Carroll A. B. Webers, Theo G. M. F. Gorgels, Hubert J. M. Smeets |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 36 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |