Abstract
Objective: Essential tremor (ET) is a common movement disorder that has a high heritability. A number of genetic studies have associated different genes and loci with ET, but few have investigated the biology of any of these genes. STK32B was significantly associated with ET in a large genome-wide association study (GWAS) and was found to be overexpressed in ET cerebellar tissue. The objective of this study is to determine the effects of overexpressed STK32B in cerebellar DAOY cells.Methods: Here, we overexpressed STK32B RNA in human cerebellar DAOY cells and used an RNA-Seq approach to identify differentially expressed genes (DEGs) by comparing the transcriptome profile of these cells to one of the control DAOY cells.Results: Pathway and gene ontology enrichment identified axon guidance, olfactory signaling, and calcium-voltage channels as significant. Additionally, we show that overexpressing STK32B affects transcript levels of previously implicated ET genes such as FUS.Conclusion: Our results investigate the effects of overexpressed STK32B and suggest that it may be involved in relevant ET pathways and genes.
Highlights
Essential tremor (ET) is one of the most common movement disorders and is typically characterized by a kinetic tremor in the hand or arms (Elble, 2013)
The olivocerebellar circuitry has been implicated in ET pathology and many calcium voltage channels are highly expressed in this circuitry (Schmouth et al, 2014)
The first ET-implicated gene found through exome sequencing was the Fused in Sarcoma gene (FUS) (Merner et al, 2012)
Summary
Essential tremor (ET) is one of the most common movement disorders and is typically characterized by a kinetic tremor in the hand or arms (Elble, 2013). A recent genome-wide association study (GWAS) identified a significant locus in STK32B and found that ET patients overexpressed STK32B in cerebellar tissue by comparison to healthy controls, suggesting potential implications of STK32B in ET (Müller et al, 2016). There have been several exome-wide studies that implicated different genetic variants as causes of ET. The first ET-implicated gene found through exome sequencing was the Fused in Sarcoma gene (FUS) (Merner et al, 2012). It is unclear whether these “ET” genes interact or have indirect effects on the expression of each other
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