Fröhlich, Alexander, Pfaff, Abigail L, Bubb, Vivien J 
ORCID: 0000-0003-2763-7004, Quinn, John P ORCID: 0000-0003-3551-7803 and Koks, Sulev ORCID: 0000-0001-6087-6643
(2023)
Transcriptomic profiling of cerebrospinal fluid identifies ALS pathway enrichment and RNA biomarkers in MND individuals.
Experimental biology and medicine (Maywood, N.J.), 248 (23).
p. 15353702231209427.
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Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder and the most common form of motor neurone disease (MND) which is characterized by the damage and death of motor neurons in the brain and spinal cord of affected individuals. Due to the heterogeneity of the disease, a better understanding of the interaction between genetics and biochemistry with the identification of biomarkers is crucial for therapy development. In this study, we used cerebrospinal fluid (CSF) RNA-sequencing data from the New York Genome Center (NYGC) ALS Consortium and analyzed differential gene expression between 47 MND individuals and 29 healthy controls. Pathway analysis showed that the affected genes are enriched in many pathways associated with ALS, including nucleocytoplasmic transport, autophagy, and apoptosis. Moreover, we assessed differential expression on both gene- and transcript-based levels and demonstrate that the expression of previously identified potential biomarkers, including <i>CAPG</i>, <i>CCL3</i>, and <i>MAP2</i>, was significantly higher in MND individuals. Ultimately, this study highlights the transcriptomic composition of CSF which enables insights into changes in the brain in ALS and therefore increases the confidence in the use of CSF for biomarker development.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Humans, Amyotrophic Lateral Sclerosis, Motor Neuron Disease, RNA, Gene Expression Profiling, Biomarkers |
| Divisions: | Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Systems, Molecular and Integrative Biology |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 09 Jan 2024 10:41 |
| Last Modified: | 23 Mar 2024 02:55 |
| DOI: | 10.1177/15353702231209427 |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3177768 |
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