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 journalArticlepeer-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 languageEnglish (US)
Pages (from-to)123-124
Number of pages2
JournalNature Genetics
Volume28
Issue number2
DOIs
StatePublished - 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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