These results are the first reported metabolomic analyses of human patients with FA. The metabolic perturbations, especially those related to 1C metabolism, may serve as a valuable biomarker panel of disease progression and response to therapy. The identification of dysregulated 1C metabolism may also inform the search for new therapeutic targets related to this pathway.
Tuesday, June 14, 2022
Metabolomics analysis reveals dysregulation in one carbon metabolism in Friedreich Ataxia
Thomas M. O'Connell, David L. Logsdon, R. Mark Payne; Molecular Genetics and Metabolism, 2022, ISSN 1096-7192,
doi:10.1016/j.ymgme.2022.06.002.
