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Open AccessArticle

The mTOR Signaling Pathway Activity and Vitamin D Availability Control the Expression of Most Autism Predisposition Genes

1
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia
2
Department of Natural Sciences, Novosibirsk National Research State University, Novosibirsk 630090, Russia
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(24), 6332; https://doi.org/10.3390/ijms20246332
Received: 29 November 2019 / Revised: 13 December 2019 / Accepted: 13 December 2019 / Published: 15 December 2019
(This article belongs to the Special Issue Medical Genetics, Genomics and Bioinformatics)
Autism spectrum disorder (ASD) has a strong and complex genetic component with an estimate of more than 1000 genes implicated cataloged in SFARI (Simon′s Foundation Autism Research Initiative) gene database. A significant part of both syndromic and idiopathic autism cases can be attributed to disorders caused by the mechanistic target of rapamycin (mTOR)-dependent translation deregulation. We conducted gene-set analyses and revealed that 606 out of 1053 genes (58%) included in the SFARI Gene database and 179 out of 281 genes (64%) included in the first three categories of the database (“high confidence”, “strong candidate”, and “suggestive evidence”) could be attributed to one of the four groups: 1. FMRP (fragile X mental retardation protein) target genes, 2. mTOR signaling network genes, 3. mTOR-modulated genes, 4. vitamin D3 sensitive genes. The additional gene network analysis revealed 43 new genes and 127 new interactions, so in the whole 222 out of 281 (79%) high scored genes from SFARI Gene database were connected with mTOR signaling activity and/or dependent on vitamin D3 availability directly or indirectly. We hypothesized that genetic and/or environment mTOR hyperactivation, including provocation by vitamin D deficiency, might be a common mechanism controlling the expressivity of most autism predisposition genes and even core symptoms of autism. View Full-Text
Keywords: genetics; bioinformatics; autism spectrum disorder (ASD); SFARI Gene database; mTOR signaling pathway; FMRP; vitamin D3 genetics; bioinformatics; autism spectrum disorder (ASD); SFARI Gene database; mTOR signaling pathway; FMRP; vitamin D3
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Trifonova, E.A.; Klimenko, A.I.; Mustafin, Z.S.; Lashin, S.A.; Kochetov, A.V. The mTOR Signaling Pathway Activity and Vitamin D Availability Control the Expression of Most Autism Predisposition Genes. Int. J. Mol. Sci. 2019, 20, 6332.

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