Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients

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• 作者：Stephanie M. Cologna ; Christine Shieh ; Cynthia L. Toth ; Antony Cougnoux ; Kathryn R. Burkert ; Simona E. Bianconi ; Christopher A. Wassif and Forbes D. Porter
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：170
• 期：8
• 页码：2060-2068
• 全文大小：512K
• ISSN：1552-4833

文摘

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.