Chloe White
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In her lecture entitled Of Mice and Men and Girls and Autism, President and
Neuroscience Researcher Joanne Berger-Sweeney spoke of her work looking at neurological
diseases in mice. When using a mouse as a model for a human disorder, she looks for four major
similarities: a mouse that models the symptoms, genetics, chemical changes and brain anatomy
of the human. Specifically, President Berger-Sweeney has studied Rett Syndrome, an autism
spectrum disorder that affects mostly females. Rett Syndrome, a regressive developmental
disorder, causes difficulties in communication and repeated hand-flapping motions. Often, the
Rett Syndrome girls only live until 30 years of age or so. One of the hardest parts about this
disorder is that until approximately 6-18 months, the girls seem neuro-typical until they start to
regress. During a period of rapid regression which occurs between 1-3 years, the girls present as
autistic, and develop habits such as the hand flapping motion. In a pseudo-stabilization period,
the autistic symptoms regress and respiratory problems begin. It’s these respiratory problems that
only allow the girls to live until 30 years.
Although I knew about this syndrome before her lecture, there was a specific detail that
President Berger-Sweeney mentioned that I was unaware of. Rett Syndrome is a syndrome where
the regulation of genes has been lost. This occurs when there’s a problem with a transcriptional
repressor known as Mecp2. Normally, Mecp2 blocks gene transcription. However in this
syndrome, it itself is inhibited so that it can no longer inhibit gene transcription. This causes the
genes to not be regulated enough. Mecp2 is located on the x-chromosome, and is associated with
95% of Rett Syndrome cases. Although this is a very high percentage, it was not enough for
President Berger-Sweeney, so her research continues.
One experiment that President Berger-Sweeney has run on her mice is called the Social
Approach experiment. In this experiment, she monitored how much time mice that modeled a
Rett syndrome like disease chose to spend alone verse with other mice. She hypothesized that
they would be more eager to spend time alone. However, the data she collected did not support
this. Instead, she found that mice spent most of their time with the other mouse (which was in a
cage). When she went to talk to the parents of girls with Rett Syndrome, they stated that the girls
can actually be very sociable. This portrays one of the most important parts about doing research:
you have to take the data as it comes. Although this data initially did not support President
Berger-Sweeney’s research, she could not alter it in any way to support her study. Instead, she
went back to her research and has been conducting more tests in order to find a cure for this
syndrome.