Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

Debra A. Thompson; Yun Li; Christina L. McHenry; Thomas J. Carlson; Xiaoling Ding; Paul A. Sieving; Eckart Apfelstedt-Sylla; Andreas Gal

doi:10.1038/88828

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy

Debra A. Thompson, Yun Li, Christina L. McHenry, Thomas J. Carlson, Xiaoling Ding, Paul A. Sieving, Eckart Apfelstedt-Sylla, Andreas Gal

Research output: Contribution to journal › Article › peer-review

145 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	123-124
Number of pages	2
Journal	Nature Genetics
Volume	28
Issue number	2
DOIs	https://doi.org/10.1038/88828
State	Published - 2001
Externally published	Yes

ASJC Scopus subject areas

Genetics

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Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. / Thompson, Debra A.; Li, Yun; McHenry, Christina L.; Carlson, Thomas J.; Ding, Xiaoling; Sieving, Paul A.; Apfelstedt-Sylla, Eckart; Gal, Andreas.

In: Nature Genetics, Vol. 28, No. 2, 2001, p. 123-124.

Research output: Contribution to journal › Article › peer-review

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AU - Apfelstedt-Sylla, Eckart

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