Of mice and men and autistic fruit flies

Autism is a hot topic for scientists engaged in brain research. If you can link your research to autism it may help you to access additional funding that is available in the USA. In response to a determined campaign by parents and lobby groups  Congress passed the Combating Autism Act which sanctioned a substantial increase in the funds available for research into the causes of autism. At the same time the high profile pressure group Autism Speaks has, by a series of mergers and alliances, notably with Cure Autism Now! and the National Alliance for Autism Research, emerged as a leading funder of autism research.  In June it announced research grants of $15.2 million USD. Then there are private trusts like the Simons Foundation which is providing long term funding for autism research at Yale($2.5 million USD), Cold Spring Harbour, ($13.8 million USD), Michigan($2.8 million USD), MIT($7.5 million USD) and Rockefeller ($7.7 million USD).

This is serious money. One hopes that it attracts serious research. The Chapel Hill School of Medicine at the University of North Carolina is a serious research institute. According to Science Daily  they have made an important discovery that

may lead to advances in understanding autism spectrum disorders, as recently, human neurexins have been identified as a genetic risk factor for autism.

They made this important discovery while researching the role of neurexin in Drosophila, that is fruit flies to the rest of us. Drosophila are an important part of the biological research toolkit. Their relatively simple genome and rapid reproductive cycle have made them a favourite of biologists researching the mechanics of evolution. But autistic fruit flies? Autism is a complex social disorder. Fruit flies are not complex social beings.

Neurexin is a basic prerequisite for  neuronal connectivity. Without it the fruit flies barely survived. Movement was severely impaired. These are primitive creatures compared to us. I would anticipate that a similar lack in humans would have far more devastating results. Autism would be the least of our worries. Never mind. The putative autism connection cannot have done any harm in obtaining funding from

  • the National Institute of General Medical Sciences,
  • National Institute of Neurological Disorders and Stroke
  • the National Institute of Mental Health 
  • the state of North Carolina.

Moving up the food chain we find a mouse study. Thanks to Mady Hornig mouse studies  of autism have received a bad press. But this one is different. Thanks again to Science Daily for telling us that

Howard Hughes Medical Institute researchers have genetically engineered mice that harbor the same genetic mutation found in some people with autism and Asperger syndrome.

The gene in question codes for for a protein called neuroligin-3.

This protein functions as a cell adhesion molecule in synapses, the junctions that connect neurons in the brain and allow them to communicate with each other. Synapses are essential to all brain activities, such as perception, behavior, memory, and thinking. Südhof said that the neuroligin-3 mutation that his team recapitulated in the mice has been identified in some people with genetic conditions known as autism spectrum disorders (ASDs). Mutations in proteins that interact with neuroligin-3 have also been detected in some people with ASDs.

Neurexin is one of these detected proteins.  (remember the fruit flies?) Is this a double whammy that damns autistic people/mice forever? Apparently not. These genetically engineered, autistic mice did rather more than “barely survive.” They showed diminished social interaction but improved cognitive performance compared to neurotypical mice. This is automatically seen as a deficit. But surely progress is driven by those individuals who turn their back on the herd and consider the external world? Never mind. In the wacky world of autism research, conformity is valued over diversity and sociability scores higher than intelligence.

But my take home message is that geek mice rule OK! [or at least they ought to]

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7 thoughts on “Of mice and men and autistic fruit flies

  1. I agree with a lot of what you’ve said, but I don’t tend to think of autism as a “complex social disorder” or even a “social disorder”.

  2. I’m always skeptical of animal models of autism. The recognized diagnostic characteristics of autism have to do with things you can mostly only see in humans. Ok, maybe social interaction can be observed in mammals. It’s a stretch though.

  3. I thought that the work on minicolumns effectively rendered aniumal models of autism null and void. Only some primates and man share the same cerebral organisation patterns.

    Why is it that autism research is so balkanised?

  4. Pingback: Can Animals Have Autism?

  5. Well none of them are paying for my research, it’s hard times for some.

    Doomed as ever to be the outsider, but history will show there research to be nothing of the kind.

    These people are fraudsters no less, criminals no less who waste money on impossible objectives while truth is starved.

    What do they hope to gain? any more than Ozymandius.

  6. Hi Amanda
    I don’t tend to think of autism as a social disorder either. I often criticize other people’s thoughtless use of language. So I will let that one stand as a reminder.

  7. Animal models are incredibly useful but because of the apparent genetic complexity of autism, the real power of an organism like drosophila cannot be realized when studying autism. Scientists can either induce a plethora of mutations and challenge the population somehow thus screening for a phenotype and backsolving for the genotype (identifying the gene of interest). Or a specific gene can be knocked down or knocked out and a behavior can be observed (mating rituals in flies or eye blinking in mice as examples). The latter method is especially useful when testing drugs.

    I find it troublesome that the diagnostic criteria for autism is so broad yet many researchers jump at the chance to explain autism with their favorite gene. It would be cool if these guys are right but my money is that they’re only be focusing on 1/100th of the genetic system.

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