One part of the brain that is especially affected in FA is the cerebellum, which helps control coordination and movement. In people with FA, certain nerve cells and connections in the cerebellum are damaged, but we still don’t fully understand why this happens. Research in the Lynch lab focuses on a brain protein called GluR2, which helps control signals between nerve cells. The group has discovered that GluR2 levels are lower in the brains of mice with FA. This is important because GluR2 helps manage calcium levels in nerve cells, and changes in calcium can affect how cells function and survive.
The hypothesis is that the shortage of frataxin disrupts a chemical process called palmitoylation, which normally helps GluR2 reach the right place in the cell and stay stable. Ms Mercado-Ayon will explore how low frataxin levels affect how GluR2 is processed and moved inside brain cells, figure out what components of the cell are responsible for these processes, and whether fixing these disruptions can restore GluR2 and improve brain function. By understanding how frataxin deficiency affects GluR2, this work may reveal new ways to protect brain cells and treat the neurological symptoms of Friedreich ataxia.