oxytocin

[mellowtigger]

MDMA (3,4 methylenedioxymethamphetamine) is known on the street as either Ecstasy or E.  The effect that it has on humans (and rats apparently) is to activate oxytocin-containing neurons and increase oxytocin levels in blood plasma.  Oxytocin is associated with the ability to read social cues and to trust other people.  An increase in oxytocin activity produces the effect that gives MDMA its colloquial names of "love drug" or "cuddle drug".  Basically, it makes people very social and friendly.  I have read elsewhere that it can be especially effective on autistics.  I emailed last month with an autistic man outside the USA who confirmed its properties.  :) 

Which brings us to today's news headline.  I mentioned 1.5 years ago that there is a good search engine in New Zealand for finding epigenetic information. Even back then, it found a few hits on autism information. Today, though, there's news about a new discovery that might be statistically relevant enough to use as a screening tool for autism risk.

Researchers identified an autistic boy with a genetic deletion of the OXTR gene.  His brother, also autistic, still had the gene but they found that it was epigenetically methylated ("turned off").  They examined a total of 119 autistics.

"In both blood samples and brain tissue, the methylation status of specific nucleotides in the oxytocin receptor gene is significantly higher in someone with autism, about 70 percent, compared to the control population, where it is about 40 percent," said co-lead author Simon G. Gregory, Ph.D., assistant professor in the Duke Department of Medicine. The work appears in BMC Medicine journal online.
- http://www.sciencedaily.com/releases/2009/10/091021212247.htm

So... epigenetics is already producing interesting and potentially useful data.  Go science!

Comments

[lordalfredhenry.livejournal.com]

Have you looked up your gene in relations to this and found anything? Just curious. I'm very curious on this topic. Oxytocin is also related to various conditions like restless legs, hyper and hyposexuality and many other things I find common as co-conditions to autism.

[mellowtigger]

Of the 24 SNP addresses for this gene that are tested by 23andme.com, a google search found that 6 of them have already been associated with autism. (Plus 2 more, but only for Chinese Han, not for Caucasians.)

Of those 6, I think that I have tracked down (in the GeneCards database) which code is the "minority" version. (They had some data mismatches, though, that may have confused me.) Minority in this context, however, could mean that only 49% of humanity has that code. It is not really the hoped-for 1% minority condition that would more easily lend itself to a claim for autism. I don't know what the risk multiplier is for an autism spectrum disorder for any of these SNP variations. (translation: It's more complicated than I know how to figure out right now.)

Here, though, is the information that I could track down.

rs237897 A or G (minor 44% G) mine is GG
rs237889 C or T (minor 36% T) mine is CT
rs2268494 A or T (minor 08% A) mine is TT
http://www.ncbi.nlm.nih.gov/pubmed/17893705

rs2268490 C or T (minor 00% T) mine is CC
rs237887 A or G (minor 02% G) mine is AG
rs1042778 G or T (minor 38% T) mine is GT
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680041/

[mellowtigger]

Entirely missing from the 23andMe report, of course, is all of the epigenetic data. *sigh* These companies will soon need to scan such information in addition to genetic base pairs, as research is beginning to show how necessary that data is to construct a complete profile for an individual.

Exact match

[lordalfredhenry.livejournal.com]

Is this supposed to be a rare combo? We're identical here.

SNP Versions John Gagon's Genotype
rs237897 A or G GG
rs237889 C or T CT
rs2268494 A or T TT

(same as yours here)

rs2268490 C or T CC
rs237887 A or G AG
rs1042778 G or T GT

Re: Exact match

[mellowtigger]

(ugh... lost the original reply when firefox locked up on me)

No, I don't think so. It would be very rare if we had the same 2 letters (homozygous) on that 3rd address as AA or that 5th address as GG.

When these letters are mixed (heterozygous), I don't know if it conveys any risk factor at all or not. I also don't know about the overall combination for all of them. I'm even finding contradictory accounts of which letter is the minority code for some of these positions. The lack of standardized reporting is very annoying. It must be a huge headache for geneticists who have to make sense of this stuff on a regular basis. :(