Of Mice and Men and Girls with Autism: Presentation by President Berger-Sweeney

Amina Kureshi


On September 17th, our own President Berger-Sweeney gave a talk on the neuroscience research she has published. Rett Syndrome, which is on the Autism Spectrum Disorder, is a severe developmental disease which affects boys and girls alike. Rett syndrome is characterized by short term overconnectivity and long term underconnectivity of neurons. Unfortunately, boys with Rett Syndrome do not survive birth, so the disease is known to affect girls. It causes motor dysfunction as well as respiratory issues, which leads to a low survival rate after the age of thirty.


There is no known cause of Rett syndrome, so how do we give mice Rett syndrome so that we may study it further?  It was found that the Mecp2 gene is downregulated in about 95% of cases of Rett syndrome. Therefore, eliminating the Mecp2 gene in mice will be an electrical, biochemical, genetic, and neuroanatomical analog to the human condition, as genes regulate development from conception. So these mice which have the Mecp2 gene eliminated then have to be tested to determine how closely they model the disease in humans. Therefore, testing was done to determine the sociability, motor skills, respiratory ability, cognitive function, ect.. Once these mice were tested, and determined to be a viable analog to Rett syndrome, they were used to study treatments for Rett syndrome.


The Mecp2 protein is used to regulate transcription of genes by binding to the promoter region of the gene and recruiting other proteins to block transcription of the respective gene. Therefore, when the Mecp2 gene is not producing the Mecp2 protein, the gene that it normally blocks is upregulated. It is theorized that this is the cause of Rett syndrome.


Acetylcholine, which is a neurotransmitter used to communicate a signal from a neuron to a muscle can be upregulated by increasing its precursor, choline. Therefore, the research conducted in Prof. Berger-Sweeney’s lab used choline as a nutritional supplement in pregnant Mecp2 mice to determine its effectiveness in preventing the onset of symptoms, particularly the cognitive symptoms. It was found that the treatment did improve symptoms, but not for the entire lifespan of the mice born having had the nutritional supplement. New avenues for research are looking into the C1 metabolism pathway to improve acetylcholine function.


The president’s talk was well thought-out and proved her scientific “chops” to us undergraduate students. Indeed, she schooled us with questions about the byproducts of the Kreb’s cycle and other biochemical mechanisms. My impression is that President Berger-Sweeney would make a good Neuroscience professor not only in lecture, but also in laboratory research. If only she had a research lab at Trinity for us students to benefit from. Perhaps the most memorable part of her talk was a shared story of another fellow female neuroscientist who was her mentee. This woman wanted to start a family and in order to be a full time mom, she was seriously considering leaving the sciences as a profession. President Berger-Sweeney, in response to hearing this, told her to work in her lab, and eventually she rose the ranks to hold a prestigious position in the sciences. This message is especially important for the female science majors, myself included, as it gently reminds us and inspires us to live a full and complete life without having to sacrifice home life for career or vice-versa.

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