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Updated: Jul 26, 2025
A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status
Published on: October 20, 2016
Cerebrospinal Fluid Protein Biomarker Discovery in CLN3
An N Dang Do1, David E Sleat2,3, Kiersten Campbell4
1Unit on Cellular Stress in Development and Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, United States.
Researchers identified novel protein biomarkers in cerebrospinal fluid for CLN3-Batten disease, a fatal neurodegenerative condition. These biomarkers could aid in evaluating new treatments for this pediatric disease.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- CLN3-Batten disease is a fatal pediatric neurodegenerative disorder with no current treatments.
- Evaluating therapies is challenging due to the disease's complex presentation.
- Biomarkers are needed to track disease progression and therapeutic efficacy.
Purpose of the Study:
- To identify protein biomarkers in cerebrospinal fluid (CSF) for CLN3-Batten disease.
- To compare two proteomic discovery methods for biomarker identification.
Main Methods:
- Proteomic analysis of CSF samples from CLN3-affected individuals and controls.
- Utilized Proximal Extension Assay (PEA) and untargeted mass spectrometry (MS).
- Identified candidate biomarkers based on adjusted p-value and fold-change ratios.
Main Results:
- PEA identified 54 candidate biomarkers; MS identified 233.
- Both methods yielded 25 common candidates, including CHIT1, NELL1, and ISLR2.
- NELL1 and ISLR2, involved in axonal development, are novel candidates for CLN3 research.
Conclusions:
- This study identified potential protein biomarkers for CLN3-Batten disease.
- NELL1 and ISLR2 represent promising targets for further investigation.
- Provides a valuable comparison of PEA and MS for CSF proteomic discovery.
