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Updated: Sep 16, 2025
07:08
A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status
Published on: October 20, 2016
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Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome
Wenping Li1, Melissa R Pergande1, Fidel Serna-Perez1
1Department of Chemistry, University of Illinois Chicago, Chicago, Illinois 60607, United States.
Journal of Proteome Research
|July 9, 2025
Summary
Smith-Lemli-Opitz Syndrome (SLOS) is a rare neurocognitive disorder. Proteomic analysis of cerebrospinal fluid identified potential biomarkers, including reelin pathway alterations and decreased dopamine, aiding therapeutic development.
Area of Science:
- Biochemistry
- Genetics
- Neuroscience
Background:
- Smith-Lemli-Opitz Syndrome (SLOS) is a rare, autosomal recessive neurocognitive disorder.
- Caused by pathogenic variants in the DHCR7 gene, leading to impaired cholesterol biosynthesis and accumulation of 7-dehydrocholesterol (7-DHC).
- Current treatments are limited, emphasizing the need for reliable biomarkers for therapeutic intervention studies.
Purpose of the Study:
- To identify potential biomarkers in cerebrospinal fluid (CSF) for SLOS.
- To investigate proteomic alterations in SLOS patients compared to controls.
- To advance understanding of SLOS pathophysiology and assess therapeutic efficacy.
Main Methods:
- Quantitative proteomic profiling using discovery-based mass spectrometry.
- Analysis of cerebrospinal fluid (CSF) from individuals with SLOS and unaffected controls.
- Identification and validation of differentially expressed proteins.
Main Results:
- Several differentially expressed proteins were identified as potential biomarkers for SLOS.
- Unrecognized alterations in the reelin signaling pathway were observed.
- A decrease in dopamine excretion was noted, implicating these processes in SLOS.
Conclusions:
- Proteomic profiling of CSF reveals potential biomarkers for SLOS.
- Alterations in the reelin pathway and dopamine metabolism are implicated in SLOS pathophysiology.
- These findings support the development of novel therapeutic strategies and biomarker assessments for SLOS.
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