Congratulations to Mariagrazia Grimaldi for a successful thesis defence!

This past Monday, Dec 19^th 2016 Mariagrazia Grimaldi from the lab of Prof. Pierre Maechler successfully defended her thesis entitled “Studies on the S445L GDH mutation associated with both hyperinsulinism/hyperammonemia (HI/HA) syndrome and epilepsy”.

Since Mariagrazia joined the Maechler lab in 2012, she has been interested in studying the effects of a mutation in the gene coding for glutamate dehydrogenase (GDH), an enzyme that resides in mitochondria and is important for metabolism. Mutations in this gene are associated with a disease (HI/HA) that causes low blood sugar, high blood ammonia levels and in some cases epilepsy. Mariagrazia’s work focused on expressing the S445L mutated form of this enzyme in pancreatic islets and hepatocytes isolated from mice that completely lack GDH respectively in pancreas and liver, or in a cultured pancreatic beta-cell model, in order to better understand the separate roles that GDH plays in each of these tissues.  Mariagrazia’s work has led to a deeper understanding of how the mutation of this important enzyme can cause disease and will help guide future therapeutic strategies for managing it.

In the future Mariagrazia would like to pursue a career in the private sector associated with biology, and we wish her all the best!

Posted by: P. Nunes-Hasler

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