The regulation of tetraspanin 8 gene expression—A potential new mechanism in the pathogenesis of bipolar disorder

Schartner, Christoph; Scholz, Claus‐Jürgen; Weber, Heike; Post, Antonia; Freudenberg, Florian; Grünewald, Lena; Reif, Andreas

doi:10.1002/ajmg.b.32571

Cited by 5 publications

(2 citation statements)

References 78 publications

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“…This may reflect involvement in oligodendrocyte development and neuroinflammation 49 , which is a risk factor for impulsivity, emotional dysregulation and psychopathology 50 . Impulsivity is high in several psychological conditions (e.g., bipolar disorder 51 ;). Our current findings are novel in highlighting the importance of Tspan2 for Bipolar disorder in humans and represents a critical starting point for further research.…”

Section: Discussionmentioning

confidence: 99%

Constrained neuro fuzzy inference methodology for explainable personalised modelling with applications on gene expression data

Singh

Doborjeh

et al. 2023

Sci Rep

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Interpretable machine learning models for gene expression datasets are important for understanding the decision-making process of a classifier and gaining insights on the underlying molecular processes of genetic conditions. Interpretable models can potentially support early diagnosis before full disease manifestation. This is particularly important yet, challenging for mental health. We hypothesise this is due to extreme heterogeneity issues which may be overcome and explained by personalised modelling techniques. Thus far, most machine learning methods applied to gene expression datasets, including deep neural networks, lack personalised interpretability. This paper proposes a new methodology named personalised constrained neuro fuzzy inference (PCNFI) for learning personalised rules from high dimensional datasets which are structurally and semantically interpretable. Case studies on two mental health related datasets (schizophrenia and bipolar disorders) have shown that the relatively short and simple personalised fuzzy rules provided enhanced interpretability as well as better classification performance compared to other commonly used machine learning methods. Performance test on a cancer dataset also showed that PCNFI matches previous benchmarks. Insights from our approach also indicated the importance of two genes (ATRX and TSPAN2) as possible biomarkers for early differentiation of ultra-high risk, bipolar and healthy individuals. These genes are linked to cognitive ability and impulsive behaviour. Our findings suggest a significant starting point for further research into the biological role of cognitive and impulsivity-related differences. With potential applications across bio-medical research, the proposed PCNFI method is promising for diagnosis, prognosis, and the design of personalised treatment plans for better outcomes in the future.

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Section: Discussionmentioning

confidence: 99%

Constrained neuro fuzzy inference methodology for explainable personalised modelling with applications on gene expression data

Singh

Doborjeh

et al. 2023

Sci Rep

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“…Enhanced Tspan8 expression identified in injured distal tubules of the kidney may contribute to tubule repair by facilitating migration and invasion of tubule cells ( Hirukawa et al, 2014 ). Moreover, Tspan8 is expressed in the hippocampus and cerebellum of the brain, and participates in the development and maintenance of neuronal circuits through regulation of the expression of downstream genes, such as neurotrophic receptor tyrosine kinase 2 ( Schartner et al, 2017 ). Tspan8 was also found to be positively associated with the risk of type 2 diabetes ( Prabhanjan et al, 2016 ; Christodoulou et al, 2019 ).…”

Section: Tspans In Metastasis Of Digestive System Tumorsmentioning

confidence: 99%

The role of Tetraspanins in digestive system tumor development: update and emerging evidence

Shao,

Bu,

Xiang

et al. 2024

Front. Cell Dev. Biol.

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Digestive system malignancies, including cancers of the esophagus, pancreas, stomach, liver, and colorectum, are the leading causes of cancer-related deaths worldwide due to their high morbidity and poor prognosis. The lack of effective early diagnosis methods is a significant factor contributing to the poor prognosis for these malignancies. Tetraspanins (Tspans) are a superfamily of 4-transmembrane proteins (TM4SF), classified as low-molecular-weight glycoproteins, with 33 Tspan family members identified in humans to date. They interact with other membrane proteins or TM4SF members to form a functional platform on the cytoplasmic membrane called Tspan-enriched microdomain and serve multiple functions including cell adhesion, migration, propagation and signal transduction. In this review, we summarize the various roles of Tspans in the progression of digestive system tumors and the underlying molecular mechanisms in recent years. Generally, the expression of CD9, CD151, Tspan1, Tspan5, Tspan8, Tspan12, Tspan15, and Tspan31 are upregulated, facilitating the migration and invasion of digestive system cancer cells. Conversely, Tspan7, CD82, CD63, Tspan7, and Tspan9 are downregulated, suppressing digestive system tumor cell metastasis. Furthermore, the connection between Tspans and the metastasis of malignant bone tumors is reviewed. We also summarize the potential role of Tspans as novel immunotherapy targets and as an approach to overcome drug resistance. Finally, we discuss the potential clinical value and therapeutic targets of Tspans in the treatments of digestive system malignancies and provide some guidance for future research.

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Regulatory SNPs and their widespread effects on the transcriptome

2018

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The regulation of tetraspanin 8 gene expression—A potential new mechanism in the pathogenesis of bipolar disorder

Cited by 5 publications

References 78 publications

Constrained neuro fuzzy inference methodology for explainable personalised modelling with applications on gene expression data

Constrained neuro fuzzy inference methodology for explainable personalised modelling with applications on gene expression data

The role of Tetraspanins in digestive system tumor development: update and emerging evidence

Regulatory SNPs and their widespread effects on the transcriptome

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