title: Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.
abstract: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple malformation syndrome with neurocognitive impairment. SLOS arises from mutations in the 7-dehydrocholesterol reductase gene which results in impaired enzymatic conversion of 7-dehydrocholesterol to cholesterol. In the current work, we sought to measure proteins that were altered in the cerebrospinal fluid from SLOS patients compared to pediatric controls. Using a multi-analyte antibody-based assay, we found that 12 proteins are altered in SLOS patients. Validation studies were carried out and the findings from this study suggest alterations in extracellular matrix remodeling and further evidence of oxidative stress within the disease pathophysiology. The results of this study will be used to explore biological pathways altered in SLOS and identifies a set of CSF proteins that can be evaluated as biomarkers in future therapeutic trials. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.|Current Location: Department of Chemistry, University of Illinois at Chicago, Chicago, IL, USA.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Cologna
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: Christine
authors.initials: C
authors.lastname: Shieh
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: Cynthia L
authors.initials: CL
authors.lastname: Toth
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: Antony
authors.initials: A
authors.lastname: Cougnoux
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: Kathryn R
authors.initials: KR
authors.lastname: Burkert
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: Simona E
authors.initials: SE
authors.lastname: Bianconi
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Wassif
authors.affiliation: Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
mesh_terms: D000293:Adolescent; D015415:Biomarkers; D016022:Case-Control Studies; D002556:Cerebrospinal Fluid Proteins / Q000134:cerebrospinal fluid*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007118:Immunoassay / Q000379:methods; D008297:Male; D020543:Proteome; D040901:Proteomics / Q000379:methods; D019082:Smith-Lemli-Opitz Syndrome / Q000134:cerebrospinal fluid* / Q000175:diagnosis* / Q000209:etiology
chemical_list: D015415:Biomarkers; D002556:Cerebrospinal Fluid Proteins; D020543:Proteome
keywords: SLOS; Smith-Lemli-Opitz; biomarkers; cerebrospinal fluid