Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
J Steroid Biochem Mol Biol ; 169: 77-87, 2017 05.
Artigo em Inglês | MEDLINE | ID: mdl-26976653

RESUMO

Smith-Lemli-Opitz syndrome (SLOS) is a severe autosomal recessive disorder resulting from defects in the cholesterol synthesising enzyme 7-dehydrocholesterol reductase (Δ7-sterol reductase, DHCR7, EC 1.3.1.21) leading to a build-up of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in tissues and blood plasma. Although the underling enzyme deficiency associated with SLOS is clear there are likely to be multiple mechanisms responsible for SLOS pathology. In an effort to learn more of the aetiology of SLOS we have analysed plasma from SLOS patients to search for metabolites derived from 7-DHC which may be responsible for some of the pathology. We have identified a novel hydroxy-8-dehydrocholesterol, which is either 24- or 25-hydroxy-8-dehydrocholesterol and also the known metabolites 26-hydroxy-8-dehydrocholesterol, 4-hydroxy-7-dehydrocholesterol, 3ß,5α-dihydroxycholest-7-en-6-one and 7α,8α-epoxycholesterol. None of these metabolites are detected in control plasma at quantifiable levels (0.5ng/mL).


Assuntos
Oxisteróis/sangue , Síndrome de Smith-Lemli-Opitz/sangue , Esteróis/sangue , Colestadienóis/sangue , Desidrocolesteróis/sangue , Radicais Livres/química , Humanos , Mutação , Oxirredutases atuantes sobre Doadores de Grupo CH-CH , Plasma/química
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...