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Open AccessArticle

A Study of Gene Expression Changes in Human Spinal and Oculomotor Neurons; Identifying Potential Links to Sporadic ALS

1
Davidson Academy, Reno, NV 89503, USA
2
Department of Biology, University of Nevada, Reno, NV 89557, USA
*
Author to whom correspondence should be addressed.
Genes 2020, 11(4), 448; https://doi.org/10.3390/genes11040448
Received: 23 March 2020 / Revised: 7 April 2020 / Accepted: 17 April 2020 / Published: 20 April 2020
(This article belongs to the Special Issue Perspectives and Opportunities for ALS in the “Omics” Era)
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that causes compromised function of motor neurons and neuronal death. However, oculomotor neurons are largely spared from disease symptoms. The underlying causes for sporadic ALS as well as for the resistance of oculomotor neurons to disease symptoms remain poorly understood. In this bioinformatic-analysis, we compared the gene expression profiles of spinal and oculomotor tissue samples from control individuals and sporadic ALS patients. We show that the genes GAD2 and GABRE (involved in GABA signaling), and CALB1 (involved in intracellular Ca2+ ion buffering) are downregulated in the spinal tissues of ALS patients, but their endogenous levels are higher in oculomotor tissues relative to the spinal tissues. Our results suggest that the downregulation of these genes and processes in spinal tissues are related to sporadic ALS disease progression and their upregulation in oculomotor neurons confer upon them resistance to ALS symptoms. These results build upon prevailing models of excitotoxicity that are relevant to sporadic ALS disease progression and point out unique opportunities for better understanding the progression of neurodegenerative properties associated with sporadic ALS. View Full-Text
Keywords: ALS; neurodegeneration; GEO2R; excitotoxicity; GABA signaling; GAD2; CALB1; GABRE ALS; neurodegeneration; GEO2R; excitotoxicity; GABA signaling; GAD2; CALB1; GABRE
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Patel, A.N.; Mathew, D. A Study of Gene Expression Changes in Human Spinal and Oculomotor Neurons; Identifying Potential Links to Sporadic ALS. Genes 2020, 11, 448.

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