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Elucidation of the metabolic signature of Friedreich's ataxia

In recent years, there has been a growing interest in the use of metabolomics in neurodegenerative diseases such as Parkinson’s disease, Alzheimer’s disease, and amyotrophic lateral sclerosis. However, insufficient resources have been dedicated to studying alterations in the levels of small molecules, metabolites, and lipids in Friedreich’s ataxia (FRDA). Therefore, we aim to identify unique metabolic signatures of FRDA human and mouse model samples using mass spectrometry–based metabolomics approaches.

Our approach to studying the role of metabolic dysfunction in FRDA disease pathogenesis is threefold:

  1. We aim to evaluate the intracellular oxidative stress and mitochondrial health and function and to assess the bioenergetics profiles of FRDA cell lines using tools to analyze oxidative metabolism;
  2. We aim to investigate the effect of frataxin reduction on metabolic pathways involved in mitochondrial function and energy metabolism in FRDA samples using several highly-sensitive mass spectrometric-based methods; and lastly
  3. We aim to delineate the impact of targeting relevant metabolic enzymes to rescue the deficits of central metabolism in FRDA.

We expect that the findings of this proposal will provide a unique opportunity to devise novel therapeutic strategies for FRDA patient diagnosis and treatment through targeting their unique metabolism.

Our research team
Our research team

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Project last modified 05/07/2021