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. 2011 Jun 1;2(2):106-120.
doi: 10.2478/s13380-011-0016-3. Epub 2011 Jun 26.

Above genetics: lessons from cerebral development in autism

Emily L Williams  1 , Manuel F Casanova
Affiliations

Above genetics: lessons from cerebral development in autism

Emily L Williams et al. Transl Neurosci. .

Abstract

While a distinct minicolumnar phenotype seems to be an underlying factor in a significant portion of cases of autism, great attention is being paid not only to genetics but to epigenetic factors which may lead to development of the conditions. Here we discuss the indivisible role the molecular environment plays in cellular function, particularly the pivotal position which the transcription factor and adhesion molecule, β-catenin, occupies in cellular growth. In addition, the learning environment is not only integral to postnatal plasticity, but the prenatal environment plays a vital role during corticogenesis, neuritogenesis, and synaptogenesis as well. To illustrate these points in the case of autism, we review important findings in genetics studies (e.g., PTEN, TSC1/2, FMRP, MeCP2, Neurexin-Neuroligin) and known epigenetic factors (e.g., valproic acid, estrogen, immune system, ultrasound) which may predispose towards the minicolumnar and connectivity patterns seen in the conditions, showing how one-gene mutational syndromes and exposure to certain CNS teratogens may ultimately lead to comparable phenotypes. This in turn may shed greater light on how environment and complex genetics combinatorially give rise to a heterogenetic group of conditions such as autism.

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Figures

Figure 1
Figure 1
This figure illustrates how the different growth-related pathways, ERK, Akt, mTOR, and Wnt, can each regulate one another. As can be visualized with this simple diagram, if one pathway is activated it is easy to see how the other pathways may also be upregulated. Here just a few means of crosstalk are illustrated, although numerous others exist as well.
See this image and copyright information in PMC

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