Skip to Navigation

Advance in Tuberous Sclerosis Brain Science

May 9, 2013
Timing is everything

Mark Zervas and Elizabeth Normand found that the timing of gene mutation during thalamus development makes a huge difference in the severity of tuberous sclerosis complex.

By manipulating the timing of disease-causing mutations in the brains of developing mice, Brown University researchers, including neuroscience graduate student Elizabeth Normand, have found that early genetic deletions in the thalamus may play an important role in course and severity of the developmental disease tuberous sclerosis complex. Findings appear in the journal Neuron.
Doctors often diagnose tuberous sclerosis complex (TSC) based on the abnormal growths the genetic disease causes in organs around the body. Those overt anatomical structures, however, belie the microscopic and mysterious neurological differences behind the disease’s troublesome behavioral symptoms: autism, intellectual disabilities, and seizures. In a new study in mice researchers highlight a role for a brain region called the thalamus and show that the timing of gene mutation during thalamus development makes a huge difference in the severity of the disease.

Normand and adviser Mark Zervas, assistant professor of biology, not only wanted to assess the timing but also to probe the role the thalamus might have in contributing to the neurological symptoms of the disease. To do both, their team genetically engineered a clever mouse model in which they could, with a dose of the drug tamoxifen, delete both alleles exclusively in thalamus neurons at the developmental stage of their choosing.

Read more of David Orenstein's article about tuberous sclerosis.