Genetic And Epigenetic Influences On Autism Spectrum Disorders : A Role For The Methyl

1619 Words Jun 1st, 2015 7 Pages
Genetic and epigenetic influences in autism spectrum disorders: A role for the methyl
CpG-binding protein in Rett syndrome.

The genetics of neurodevelopmental disorders (NDD) rarely display a Mendelian mode of inheritance, and can result from a single rare gene mutation, more common variations in single nucleotide polymorphisms, or often a combination of these two factors in conjunction with environmental influences [1]. In contrast, epigenetic mechanisms are heritable changes in gene expression which do not change the DNA sequence [1]. Epigenetic changes to the genome may predispose the development of NDD when combined with the aforementioned genetic risk factors [1].

Autism Spectrum Disorders

Autism spectrum disorders (ASD) are a class of NDD affecting mostly males, which are largely idiopathic and display extensive variation in terms of phenotype, severity and degree of heritability [2]. It is postulated that the pathology of ASD is the result of a complex interaction between genetic predisposition and environmental risk factors, which disturb the developing brain [1]. ASD commonly involve deficits in social interaction and cognition, language, emotional learning and the presence of repetitive, stereotyped behaviours [1, 3, 4]. The brains of autistic children display reductions in long distance connectivity, abnormally regulated apoptosis and cell division, and increased inflammation [4].Additional studies have demonstrated gliosis, abnormal neuronal migration and…
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