Links between genetics and pathophysiology in the autism spectrum disorders.
Bottom Line: Significant collaborative effort has been made over the last 15 years in an attempt to unravel the genetic mechanisms underlying these conditions.This has led to important discoveries, both of the roles of specific genes, as well as larger scale chromosomal copy number changes.Here, we summarize some of the latest genetic findings in the field of ASD and attempt to link them with the results of pathophysiological studies to provide an overall picture of at least one of the mechanisms by which ASD may develop.
Affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.Show MeSH
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Mentions: Therefore, there appears to be strong concordance between observed structural alterations in autistic brains and the underlying genetic susceptibility loci identified. However, this does not mean that this is the only mechanism involved in ASD susceptibility (Fig 2). For example, in a recent pathway analysis Yaspan et al identified 17 pathways, including the uridine diphosphate glycosyltransferase 2 protein family and genes involved in synthesis and degradation of ketone bodies. The latter could affect γ-aminobutyric acid (GABA) levels, a neurotransmitter system implicated in ASD (Yaspan et al, 2011).
Affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.