Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

Dang, An; Sleat, David E.; Campbell, Kiersten; Johnson, Nicholas L.; Zheng, Haiyan; Wassif, Christopher A.; Dale, Ryan; Porter, Forbes D.

doi:10.1021/acs.jproteome.3c00199

Cited by 2 publications

(2 citation statements)

References 87 publications

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“…Prospective protein profiling of CSF from LP from 27 preterm infants showed that the proteome can predict neurodevelopmental outcomes [30]. In the proteomic study of CSF from children with the syndromic CLN3-Batten, a fatal neurodegenerative disease caused by mutations in the endolysosomal transmembrane CLN3 protein, a protein implicated in axonal development, were identified as candidate biomarkers [31].…”

Section: Discussionmentioning

confidence: 99%

Identification of Central Nervous System Oncologic Disease Biomarkers in EVs from Cerebrospinal Fluid (CSF) of Pediatric Patients: A Pilot Neuro-Proteomic Study

Kajana,

Spinelli,

Garbarino

et al. 2023

Biomolecules

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Cerebrospinal fluid (CSF) is a biochemical–clinical window into the brain. Unfortunately, its wide dynamic range, low protein concentration, and small sample quantity significantly limit the possibility of using it routinely. Extraventricular drainage (EVD) of CSF allows us to solve quantitative problems and to study the biological role of extracellular vesicles (EVs). In this study, we implemented bioinformatic analysis of our previous data of EVD of CSF and its EVs obtained from congenital hydrocephalus with the aim of identifying a comprehensive list of potential tumor and non-tumor biomarkers of central nervous system diseases. Among all proteins identified, those enriched in EVs are associated with synapses, synaptosomes, and nervous system diseases including gliomas, embryonal tumors, and epilepsy. Among these EV-enriched proteins, given the broad consensus present in the recent scientific literature, we validated syntaxin-binding protein 1 (STXBP1) as a marker of malignancy in EVD of CSF and its EVs from patients with pilocytic astrocytoma and medulloblastoma. Our results show that STXBP1 is negatively enriched in EVs compared to non-tumor diseases and its downregulation correlates with adverse outcomes. Further experiments are needed to validate this and other EV markers in the blood of pediatric patients for translational medicine applications.

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Section: Discussionmentioning

confidence: 99%

Identification of Central Nervous System Oncologic Disease Biomarkers in EVs from Cerebrospinal Fluid (CSF) of Pediatric Patients: A Pilot Neuro-Proteomic Study

Kajana,

Spinelli,

Garbarino

et al. 2023

Biomolecules

View full text Add to dashboard Cite

show abstract

“…Therefore, it was proposed that these genes can provide fresh clinical data that can be applied to the diagnosis and effective therapy of IBD ( 73 ). Although the mechanisms through these genes cause disease are unclear, FAM217B has been identified as a protein biomarker for syndromic CLN3-Batten ( 116 ). In addition, differentially expressed RIBC2 is a prognostic biomarker in cervical cancer ( 117 ).…”

Section: Roles Of Dnam In Ibdmentioning

confidence: 99%

Effects of DNA methylation and its application in inflammatory bowel disease (Review)

Akanyibah,

Zhu,

Wan

et al. 2024

Int J Mol Med

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Inflammatory bowel disease (IBD) is marked by persistent inflammation, and its development and progression are linked to environmental, genetic, immune system and gut microbial factors. DNA methylation (DNAm), as one of the protein modifications, is a crucial epigenetic process used by cells to control gene transcription. DNAm is one of the most common areas that has drawn increasing attention recently, with studies revealing that the interleukin (IL)-23/IL-12, wingless-related integration site, IL-6-associated signal transducer and activator of transcription 3, suppressor of cytokine signaling 3 and apoptosis signaling pathways are involved in DNAm and in the pathogenesis of IBD. It has emerged that DNAm-associated genes are involved in perpetuating the persistent inflammation that characterizes a number of diseases, including IBD, providing a novel therapeutic strategy for exploring their treatment. The present review discusses DNAm-associated genes in the pathogenesis of IBD and summarizes their application as possible diagnostic, prognostic and therapeutic biomarkers in IBD. This may provide a reference for the particular form of IBD and its related methylation genes, aiding in clinical decision-making and encouraging therapeutic alternatives.

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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

Cited by 2 publications

References 87 publications

Identification of Central Nervous System Oncologic Disease Biomarkers in EVs from Cerebrospinal Fluid (CSF) of Pediatric Patients: A Pilot Neuro-Proteomic Study

Identification of Central Nervous System Oncologic Disease Biomarkers in EVs from Cerebrospinal Fluid (CSF) of Pediatric Patients: A Pilot Neuro-Proteomic Study

Effects of DNA methylation and its application in inflammatory bowel disease (Review)

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