More epigenetics. This time with autism.

Study reveals possible link between autism and oxytocin gene via non-DNA sequence mutation:
[Via Eureka! Science News – Popular science news]

A new study indicates a link between autism and alterations to the oxytocin receptor, OXTR, caused by inherited alterations that do not involve DNA sequence mutation. The study, published in the open access journal BMC Medicine, identified the non-DNA change in ‘OXTR’ via an autistic child and his mother, who potentially has obsessive-compulsive disorder.


This is a very preliminary paper. Remember, correlation does not mean causation. They make the point that autism is caused by many things.

What is interesting is that the oxycontin receptor gene is altered, not in its sequence by in an epigenetic process called CpG methylation of the DNA. They show that in cells from the peripheral blood and temporal cortex of autism patients there is an increased pattern of methylation of the areas that control expression of the oxycontin receptor.

DNA methylation usually acts to reduce gene expression. That is exactly what they saw in these patients for the oxycontin receptor gene.

Some more work will need to be done to prove any sort of causation. But this is an instance where simply having the genomic DNA sequence would not be very helpful because current techniques do not differentiate between regular DNA and methylated DNA.

So all these sequences would have looked normal because there were not any sequence mutations. It may very well be necessary to determine methylation patterns in addition to sequence in order to get a better idea of what is really going on.

Either that or directly sequence the mRNAs and try to get a real feeling for how much gene expression patterns are altered.

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