Partial rescue of retinal function and sterol steady-state in a rat model of Smith-Lemli-Opitz syndrome.
Pediatr Res
; 61(3): 273-8, 2007 Mar.
Article
em En
| MEDLINE
| ID: mdl-17314682
ABSTRACT
The Smith-Lemli-Opitz syndrome (SLOS) is the first-described in a growing family of hereditary defects in cholesterol biosynthesis, and presents with a spectrum of serious abnormalities, including multiple dysmorphologies, failure to thrive, cognitive and behavioral impairments, and retinopathy. Using a pharmacologically induced rat model of SLOS that exhibits key hallmarks of the disease, including progressive retinal degeneration and dysfunction, we show that a high-cholesterol diet can substantially correct abnormalities in retinal sterol composition, with concomitant improvement of visual function, particularly within the cone pathway. Although histologic degeneration still occurred, a high-cholesterol diet reduced the number of pyknotic photoreceptor nuclei, relative to animals on a cholesterol-free diet. These findings demonstrate that cholesterol readily crosses the blood-retina barrier (unlike the blood-brain barrier) and suggest that cholesterol supplementation may be efficacious in treating SLOS-associated retinopathy.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Retina
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Esteróis
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Colesterol na Dieta
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Síndrome de Smith-Lemli-Opitz
Tipo de estudo:
Prognostic_studies
Limite:
Animals
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Female
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Humans
/
Pregnancy
Idioma:
En
Revista:
Pediatr Res
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Estados Unidos