Journal article
Smith-Lemli-Opitz syndrome
Expert reviews in molecular medicine, Vol.13, pp.e24-e24
07/22/2011
DOI: 10.1017/S146239941100189X
PMCID: PMC3366105
PMID: 21777499
Abstract
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. Elucidation of the biochemical and genetic basis for SLOS, specifically understanding SLOS as a cholesterol deficiency syndrome caused by mutation in DHCR7, opened up enormous possibilities for therapeutic intervention. When cholesterol was discovered to be the activator of sonic hedgehog, cholesterol deficiency with inactivation of this developmental patterning gene was thought to be the cause of SLOS malformations, yet this explanation is overly simplistic. Despite these important research breakthroughs, there is no proven treatment for SLOS. Better animal models are needed to allow potential treatment testing and the study of disease pathophysiology, which is incompletely understood. Creation of human cellular models, especially models of brain cells, would be useful, and in vivo human studies are also essential. Biomarker development will be crucial in facilitating clinical trials in this rare condition, because the clinical phenotype can change over many years. Additional research in these and other areas is critical if we are to make headway towards ameliorating the effects of this devastating condition.
Details
- Title: Subtitle
- Smith-Lemli-Opitz syndrome
- Creators
- Andrea E. DeBarber - Oregon Health & Science UniversityYasemen Eroglu - Oregon Health & Science UniversityLouise S. Merkens - Oregon Health & Science UniversityAnuradha S. Pappu - Oregon Health & Science UniversityRobert D. Steiner - Oregon Health & Science University
- Resource Type
- Journal article
- Publication Details
- Expert reviews in molecular medicine, Vol.13, pp.e24-e24
- Publisher
- Cambridge Univ Press
- DOI
- 10.1017/S146239941100189X
- PMID
- 21777499
- PMCID
- PMC3366105
- ISSN
- 1462-3994
- eISSN
- 1462-3994
- Number of pages
- 19
- Grant note
- NIH Office of Rare Diseases Research (ORDR) R01 HL073980 / US Public Health Service; United States Department of Health & Human Services; United States Public Health Service U54 HD061939 / NICHD; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) R01HL073980 / NATIONAL HEART, LUNG, AND BLOOD INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) STAIR consortium U54HD061939 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
- Language
- English
- Date published
- 07/22/2011
- Academic Unit
- Stead Family Department of Pediatrics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
- Record Identifier
- 9984691525402771
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