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Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
Pappu, Anuradha S; Connor, William E; Merkens, Louise S; Jordan, Julia M; Penfield, Jennifer A; Illingworth, D Roger; Steiner, Robert D.
Afiliación
  • Pappu AS; Division of Endocrinology, Diabetes, and Clinical Nutrition, Department of Medicine, Oregon Health and Science University, Portland, OR 97239, USA. pappua@ohsu.edu
J Lipid Res ; 47(12): 2789-98, 2006 Dec.
Article en En | MEDLINE | ID: mdl-16983147
Smith-Lemli-Opitz syndrome (SLOS) is an inherited autosomal recessive cholesterol deficiency disorder. Our studies have shown that in SLOS children, urinary mevalonate excretion is normal and reflects hepatic HMG-CoA reductase activity but not ultimate sterol synthesis. Hence, we hypothesized that in SLOS there may be increased diversion of mevalonate to nonsterol isoprenoid synthesis. To test our hypothesis, we measured urinary dolichol and ubiquinone, two nonsterol isoprenoids, in 16 children with SLOS and 15 controls, all fed a low-cholesterol diet. The urinary excretion of both dolichol (P < 0.002) and ubiquinone (P < 0.02) in SLOS children was 7-fold higher than in control children, whereas mevalonate excretion was comparable. In a subset of 12 SLOS children, a high-cholesterol diet decreased urinary mevalonate excretion by 61% (P < 0.001), dolichol by 70% (P < 0.001), and ubiquinone by 67% (P < 0.03). Our hypothesis that in SLOS children, normal urinary mevalonate excretion results from increased diversion of mevalonate into the production of nonsterol isoprenoids is supported. Dietary cholesterol supplementation reduced urinary mevalonate and nonsterol isoprenoid excretion but did not change the relative ratios of their excretion. Therefore, in SLOS, a secondary peripheral regulation of isoprenoid synthesis may be stimulated.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colesterol en la Dieta / Ubiquinona / Síndrome de Smith-Lemli-Opitz / Dolicoles Tipo de estudio: Observational_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Lipid Res Año: 2006 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Colesterol en la Dieta / Ubiquinona / Síndrome de Smith-Lemli-Opitz / Dolicoles Tipo de estudio: Observational_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Lipid Res Año: 2006 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos