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.
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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