Monday, 23 July 2012
Almost autistic mice, part 1.
Autism isn’t a single disorder. It’s a full spectrum of developmental delays, which include several common symptoms. Delayed speech or even lack thereof, impaired relations with the outside world, narrowly focused attention, repetitive activities and interests. IQ may be lower, but not always. There are cases of autistic children that learn to read and write, play piano or solve mathematic equations, only they still don’t speak.
Because autism is a spectrum, each symptom can differ in their severity. You can’t find two autists that present exactly the same. Medicine classifies them according to the severity of symptoms. It’s also important if the IQ is impaired. The “least disordered” on the spectrum are people with Asperger Syndrome, who are intellectually normal, sometimes even get their PhDs, but they dramatically fail in social relationships, although they need them badly. The TV version of this is Sheldon Cooper.
(Any geek lacking social skills should be warned though. Do not diagnose yourselves over the Internet. It’s possible to make spelling mistakes without dyslexia, just as well one can have bad social skills without the Asperger’s. You alone can’t tell the difference between sheer lack of talent and a disorder. If you need to know, please go to a specialist.)
Et cetera. There is a huge ass load of the relevant literature. I am not a medical doctor, so I know about autistic people just as much as any of you can read.
Professionally I am more interested in autistic mice.
To help these kids (and adults), somebody must do basic research. These are conducted on animals. You can’t do squat without transgenic mouse models.
The problem is we are still learning which genes we need to modify.
A few posts earlier I wrote about the neuron. It had dendritic spines, which didn’t really look spiney. More like red mushrooms. Those dendritic spines make synapses with the axons of other neurons. Remember?
The researchers focus on these mushrooms. We suspect that autism - and the other disorders like for example schizophrenia - are caused largely by the faulty connections and signaling between neurons. Shortly - we have to turn off genes so the shrooms get fouled up and then we see what happens.
Okay, it’s a simplified version.
However, since autism is such a complicated disorder, which genes to choose from? What strategy to use? What will bring us closer to the real deal?
Now you are probably expecting a smart answer in two snappy phrases. Unfortunately, we're not on a news website, and science is always more about the questions than the answers. Anyway, this post got out of control. It's already too big.
See you then, and until the next episode.