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Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.

Federica Morani^1,2, Stefano Doccini¹, Giovanna Chiorino³

¹Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.

Frontiers in Neurology

|February 15, 2021

Summary

Researchers identified new biological pathways involved in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). This study offers potential biomarkers for diagnosing ARSACS and highlights common therapeutic targets for neurodegenerative diseases.

Keywords:

ARSACS SomaLogic technology engulfment of cells neuroinflammation proteomic analysis sacsin synaptogenesis

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Area of Science:

Neuroscience
Genetics
Biochemistry

Background:

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare neurodegenerative disorder with an unknown cure.
Understanding ARSACS disease mechanisms is crucial for developing diagnostic strategies and treatments.

Purpose of the Study:

To investigate ARSACS pathophysiology by analyzing proteomic data from patients and a SACS knockout cell model.
To identify novel biomarkers and impaired functional pathways in ARSACS.

Main Methods:

Proteomics analysis using SomaLogic technology on cell lysates from ARSACS patients and a SACS KO SH-SY5Y neuroblastoma cell model.
Bioinformatics and network approaches to analyze protein expression changes.
Identification of molecular targets related to neuroinflammation and neuronal development.

Main Results:

Significantly dysregulated biological processes including neuroinflammation, synaptogenesis, and cellular engulfment were identified in both ARSACS patients and the SACS KO model.
Several differentially expressed proteins were linked to genes previously implicated in other neurodegenerative conditions.
Novel biomarkers for ARSACS diagnosis were discovered.

Conclusions:

The study reveals key dysfunctional pathways in ARSACS, including neuroinflammation and synaptogenesis.
Common molecular networks affected in ARSACS and other neurodegenerative diseases present potential therapeutic targets.
Findings may lead to improved diagnostic biomarkers and future treatment strategies for ARSACS.