Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.
Nat Genet
; 28(2): 123-4, 2001 Jun.
Article
em En
| MEDLINE
| ID: mdl-11381255
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.
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Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Aciltransferases
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article