MassIVE MSV000096814

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Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome

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Description

Smith-Lemli-Opitz Syndrome (SLOS) is a rare, autosomal recessive, neurocognitive disorder caused by mutations in the 7-dehydrocholesterol reductase gene (DHCR7), leading to impaired cholesterol biosynthesis. The biochemical results of these defects include accumulation of the cholesterol precursor, 7-dehydrocholesterol (7DHC), and reduced cholesterol. Individuals with SLOS present with a spectrum of developmental anomalies and neurocognitive impairments. Despite various therapeutic approaches being explored, no FDA-approved treatment exists, highlighting the need for reliable biomarkers to better understand the disease pathophysiology that can be used to monitor therapeutic intervention studies. Here, we utilized discovery-based mass spectrometry to perform quantitative proteomic profiling of cerebrospinal fluid (CSF) from SLOS individuals compared to unaffected controls. Our analysis identified several differentially expressed proteins that could serve as potential biomarkers for assessing therapeutic efficacy and advancing our understanding of SLOS. Notably, we observed significant alterations in the reelin signaling pathway and a decrease in catecholamine release, implicating these processes in the development and progression of the disease. [doi:10.25345/C5PC2TN0Q] [dataset license: CC0 1.0 Universal (CC0 1.0)]

Keywords: rare neurocognitive disease ; isobaric labeling ; protein biomarker ; reelin ; granin family ; DatasetType:Proteomics

Contact

Principal Investigators:
(in alphabetical order) 		Stephanie Cologna, University of Illinois at Chicago, USA
Submitting User: jklwp007
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Distinct protein accessions are counted across all files submitted in the "Statistical Analysis of Quantified Analytes" category having a "Protein" column in this dataset.

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