Abstract
In the field of autism, an enormous increase in available information makes it very difficult to connect fragments of knowledge into a more coherent picture. We present a literature mining method, RaJoLink, to search for matched themes in unrelated literature that may contribute to a better understanding of complex pathological conditions, such as autism. 214 full text articles on autism, published in PubMed, served as a source of data. Using ontology construction, we identified the main concepts of what is already known about autism. Then, the RaJoLink method, based on Swanson's ABC model, was used to reveal potentially interesting, but not yet investigated, connections between different concepts in research. Among the more interesting concepts identified with RaJoLink in our study were calcineurin and NF-kappaB. Both terms can be linked to neuro-immune abnormalities in the brain of patients with autism. Further research is needed to provide stronger evidence about calcineurin and NF-kappaB involvement in autism. However, the analysis presented confirms that this method could support experts on their way towards discovering hidden relationships and towards a better understanding of the disorder.
Highlights
Autism spectrum disorders (ASDs) are currently one of the leading causes of developmental disability with approximately 1% children affected [1]
We present a literature mining method, RaJoLink, to search for matched themes in unrelated literature that may contribute to a better understanding of complex pathological conditions, such as autism. 214 full text articles on autism, published in PubMed, served as a source of data
Among known genetic conditions that are associated with ASD in higher percentage compared with general population are fragile X syndrome (FXS), tuberous sclerosis, fragile premutation, phenylketonuria, 15q11-13 duplication, 16p11.2 duplication, and mutations in NGLN3, 4, phosphatase and tensin homolog (PTEN), and SHANK3, to name some of them
Summary
Autism spectrum disorders (ASDs) are currently one of the leading causes of developmental disability with approximately 1% children affected [1]. One of recently most intensively studied area of geneenvironmental interaction possibly involved in development of ASD is suspected immunological factors and processes These factors include prenatal, genetic, and postnatal findings, as well as the discovery of a dysfunctional chronic proinflammatory state in brain tissue and cerebrospinal fluid in subsets of autistic patients [5]. Some genes, such as the tyrosine kinase receptor 7q31 metastasis receptor site (MET) gene, an immune-related gene affecting tyrosine kinase that can be involved in innate immune dysfunction, can double the risk of autism [6]. Besides immune dysfunctions there are other epigenetic mechanisms potentially linked to autism such as increased level of oxidative stress, mitochondrial dysfunction, and excitotoxicity [2, 3]
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