期刊
NATURE GENETICS
卷 28, 期 2, 页码 123-124出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/88828
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资金
- NEI NIH HHS [EY07003, EY06094, EY12298] Funding Source: Medline
The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A tall-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.
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