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Maciamo
22-06-13, 13:37
This was published two weeks ago in PLOS Genetics: Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism (http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003523#pgen-1003523-g002), by Noh et al.

Author Summary

Autism Spectrum Disorders (ASD) are characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. ASD are highly heritable and many different stretches of DNA have been found to be duplicated or deleted in individuals with ASD. We found that an unusually high number of genes affected by these DNA deletions/duplications are associated with the functioning of synaptic transmission between nerve cells. The proteins made by many of these genes are known to interact with each other and, together with proteins from other deleted/duplicated genes, form a large interlinked biological network. This network was affected by almost 50% of the deletions/duplications in the ASD patients considered. Many individual ASD patients had deletions or duplications of multiple genes within this network, but for those patients with just a single gene from the network changed, that single gene appeared to play an important role. Furthermore, the network predicts that the effects arising from the genes in the deletions are similar to the effects arising from the genes in the duplications. Thus, the way that this ASD-associated network is wired together contributes to the understanding of the impact of these DNA deletions and duplications.

A chart of the genes network involved. In red are the 22 genes previously known to be implicated in autism.

http://www.plosgenetics.org/article/fetchObject.action?uri=info:doi/10.1371/journal.pgen.1003523.g002&representation=PNG_M (http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003523.g002/largerimage)

The genetics of autism, like the condition itself, is extremely complex. It will take many more years before the heritability of autism can be properly explained and medical solutions are developed to help autism sufferers.

hope
22-06-13, 16:41
I read this online a few days ago and found it very interesting, as regards another window into the mechanics behind ASD.

When and in what manner this, or future studies might benefit individuals likely to have an autistic child, will remain to be seen. It is early days.

However that aside, taken as a study in itself, I think it`s very good. I certainly have learned a lot more from reading it.

LeBrok
22-06-13, 18:09
Wow, staggering network and interaction complexity of genes and proteins!
This should bury vaccine hypothesis forever now.

Twilight
10-08-13, 05:51
That is a lot of Genes I apparently have, anyways this is quite interesting. :) Thanks for sharing

nordicquarreler
10-08-13, 06:49
Wow, staggering network and interaction complexity of genes and proteins!
This should bury vaccine hypothesis forever now. Not quite. What if another article cited the links between certain forms of breast cancer and mtdna genetic abnormalities? Would Fukushimi then be eliminated as a cause for breast cancer in Japan? You can't (or shouldn't anyway) separate nature from nurture. Environment will always play a crucial role in how we turn out. While this is a simplistic argument, but it proves the point effectively. I think the relationship between vaccines and autism is very clear.

ritageorge
20-08-14, 12:59
Very interesting! Owing to the complexity of the genetics behind ASD, the range of symptomology across the spectrum and the gene-gene interactions, genetic studies in autism continues to be a challenging area.
Thanks for posting.