| Autor: |
Thompson, Debra A., Li, Yun, McHenry, Christina L., Carlson, Thomas J., Ding, Xiaoling, Sieving, Paul A., Apfelstedt-Sylla, Eckart, Gal, Andreas |
| Předmět: |
|
| Zdroj: |
Nature Genetics; Jun2001, Vol. 28 Issue 2, p123, 2p |
| Abstrakt: |
The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and 396delAA) in three individuals with severe, early-onset disease. We showed that the S175R mutant has no acyltransferase activity in transfected COS-7 cells. Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
