Tuesday, September 29, 2009

Epigenetics rock my world!

Studying the neuropathology of the brain of someone with Autism shows definite aberrations in brain growth, nero patterning and cortical connections. Changes to the structure and function of synapses have also been seen in the pathology of autism in genetic and animal studies. Also, environmental factors are likely to interact with the underlying genetic profile, and foster the clinical heterogeneity seen in autism spectrum disorders. There seems to be little real medical focus as far as I can find in the medical community about the enviornmental triggers.

What does this mean? The three major parts of the brain that show aberrations and autism symptoms brain stem, cerebellum and corpus callesum.


The autism spectrum disorders are a complex group of behaviorally related disorders that are primarily genetic in origin. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome).

Larger datasets in genetics, a focus on the early signs of autism, and increased recognition of the importance of defining subgroups of children with autism are leading to a greater understanding of the etiologies of autism. A growing interest in defining the molecular biology of social cognition, which is at the core of autism, will lead to expansion of our presently limited choices of mechanistically based interventions.

I quote above 2 paragraphs from pub med.gov
http://www.ncbi.nlm.nih.gov/pubmed/17919129?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DiscoveryPanel.Pubmed_Discovery_RA&linkpos=3&log$=relatedreviews&logdbfrom=pubmed

This is all important along with all of the sibling studies and new focuses on the social cognition could really get to the core of understanding autism.

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