Genetic explanation for why autism (apparently) affects more males than females

22 Feb

Firstly we should start by saying there is a strand to the debate that strongly indicates that autism in females is heavily underdiagnosed.

That said, interesting new research emerges from George Washington University.

The team basically looked at a gene implicated in autism called retinoic acid-related orphan receptor-alpha, or RORA (brains of autistic people make less of it than usual) and bathed it in two things.

Firstly they bathed human brain cells in an oestrogen mix and secondly they bathed different brain cells in DHT. The oestrogen _enhanced_ RORA production whereas the DHT _supressed_ it.

This is not to downplay the role that underdiagnosis in females very probably plays but it does show how genes affect autism directly.

7 Responses to “Genetic explanation for why autism (apparently) affects more males than females”

  1. AWOL February 22, 2011 at 21:26 #

    That`s it then we can all go home ..Bring Brian back its safe the war is over..

    Heres a study worth a mention that is Autism related I could fill the page with more of the same ..

    An Astounding Discovery: Gut Flora Influences Brain Development
    > Thursday, February 17, 2011 – Byron Richards, CCN

    The new study is with mice that are bread to have no digestive
    > bacteria. Scientists can then introduce the bacteria or not, creating
    > a wide range of fascinating scientific experiments, all the while
    > comparing them to mice with normal gut flora, and all the while
    > measuring genomic signaling. In the current study researchers found
    > that the no-bacteria mice grew up and had much more hyperactive and
    > risky behavior as adults. If they were given normal bacteria early in
    > their life then they grew up with the same normal behavior traits of
    > control mice. If they were given normal bacteria later in life the
    > hyper/risky behavior was already established. I’m giving you the
    > simple explanation of the study; it was done using advanced genomic
    > monitoring to see what was going on. It was clear that the gut genomic
    > signaling was influencing brain development.
    > “The data suggests that there is a critical period early in life when
    > gut microorganisms affect the brain and change the behavior in later
    > life,” says Dr. Rochellys Diaz Heijtz, first author of the study.”
    > In other words, the proper formation of brain structure and the
    > healthy plasticity of nerve networks are influenced by gut bacteria.
    > While this is an animal study there is no data to indicate that this
    > is also not the case for humans – to the contrary, this goes a long
    > way towards helping to explain a great deal of human mental health
    > issues and may shed a new understanding on how such problems get
    > started. Extrapolating on the meaning of the data would certainly
    > suggest that antibiotics, which disrupt normal bacterial evolution in
    > the digestive tract, could be a significant cause or contributor to
    > autism, ADHD, mood disorders, and generally lessened cognitive ability.
    > The complete article is at the given link.

  2. passionlessDrone February 23, 2011 at 03:15 #

    Hello friends –

    From the article:

    The researchers found that estrogen has the opposite impact, boosting RORA, and as a result raising the enzyme that converts testosterone to estrogen. If high testosterone is found to be a cause of autism, estrogen may be protecting females from developing the disorder, says Dr. Hu.

    From my comments on LBRB in October, 2010.

    What about going to the ‘E’ as in estrogen? It does seem to be protective for things like neuroinflammation. Anyways, just a thought that it could be contributing.

    Oh snap!

    The first RORA paper by Hu was actually very cool:

    Thanks for posting this. How did I miss the paper in pubmed?

    – pD

  3. daedalus2u February 23, 2011 at 05:43 #

    awol, interesting paper. The surface is important too, that is where the bacteria I am working with hang out.

    You might want to look at how estrogen and testosterone affect NO levels in the brain too.

    Estrogen is protective for things like neuroinflammation because activation of the estrogen receptor causes the production of NO and NO is anti-inflammatory.

  4. AWOL February 23, 2011 at 22:12 #

    Daedalus no problem my friend, and another interesting spoke in the autism wheel

    Cholesterol supplementation reverses many symptoms of autism in SLOS disorder. This deficiency also common in “regular” autism.

    Dr. Richard Kelly, a research physician at John Hopkins University has found, along with his colleagues, that autistic symptoms prevalent in the genetic disorder SLOS quickly reversed after supplementation with dietary cholesterol. Some of the many improvements included sleeping through the night, overcoming aberrant behaviors, learning to walk, speaking for the first time and becoming more responsive and social family members. In addition, other benefits of cholesterol supplementation included a decreased rate of infections, reduced skin rashes, marked reduction in self-hurtful behaviors, improved muscle tone, decreased tactile defensiveness, more rapid growth and improved behavior overall. Parents reported their children having significant decreases in autistic behavior and even some adults, without speech, spoke for the first time – all within days of taking cholesterol supplements. These changes occurred before cholesterol values had increased in the blood, which indicates that the improvements may be a result of cholesterol forming its derivatives – such as steroid hormones or bile salts.


  1. Autism Blog – Genetic explanation for why autism (apparently … | My Autism Site | All About Autism - February 22, 2011

    […] Read the original: Autism Blog – Genetic explanation for why autism (apparently … […]

  2. Tweets that mention Autism Blog - Genetic explanation for why autism (apparently) affects more males than females « Left Brain/Right Brain -- - February 23, 2011

    […] This post was mentioned on Twitter by Kev, Brandon Blietz and Peter H Brown, jamie davis. jamie davis said: Autism Blog – Genetic explanation for why autism (apparently …: The team basically looked at a gene implicated… […]

  3. Elegant Observations, Feedback Loops Within Entangled Systems, and Possible Clues On Why So Many People With Autism Are Male – “Sex Hormones in Autism: Androgens and Estrogens Differentially and Reciprocally Regulate RORA, a Novel Candidate Gene for A - March 8, 2011

    […] release and google news cycle for this paper seemed to have been well ahead of the pubmed robot; Kev had a post on this study a few weeks before it hit pubmed with a postdate.  I generally skip out on the interest story/vaccine fairytale story/vaccine […]

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.

%d bloggers like this: