Mirella Dottori, PhD

PI/Investigator: Mirella Dottori, PhD - University of Wollongong, Australia

Award type: General Research Grant co-funded with FARA US

Grant Title: Lipidomic profiling and analyses of Friedreich’s Ataxia iPSC-derived dorsal root ganglia sensory neurons.

Lay Summary: It’s becoming well established from the literature that fat-related metabolism may be disrupted in Friedreich’s ataxia (FRDA) at the cellular level.

Whilst this has been explored in many FRDA cell types, it is yet to be examined in FRDA sensory nerves. This is of great importance as these sensory nerves primarily degenerate in FRDA. Directly relating to this, our laboratory has generated FRDA sensory nerves ‘in the dish’ using FRDA patient stem cells and we have evidence showing their sensory deficiencies. This deficiency may be dependent on the fat composition of the nerve cell membrane.

We propose to explore this further by profiling the lipid compositions in these cell types using a technique called mass spectrometry.

The outcomes of this project will help us understand disease related mechanisms that contribute to the ataxia neuropathology and, importantly, point to potential new therapeutic targets that may halt the progressive degeneration and restore function within the sensory nervous system.