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. 

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.

W131 Detection of compound heterozygotes for GAA expansion & a frataxin gene (FXN) point mutation in patients with friedreich’s ataxia

A. Pagdhune, A. Dalal, M. M; Clinica Chimica Acta, Volume 530, Supplement 1, 2022, Page S341, ISSN 0009-8981, doi:10.1016/j.cca.2022.04.886.

Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach

Muñoz-Lasso DC, Mollá B, Sáenz-Gamboa JJ, Insuasty E, de la Iglesia-Vaya M, Pook MA, Pallardó FV, Palau F and Gonzalez-Cabo P (2022). Front. Mol. Neurosci. 15:912780. doi: 10.3389/fnmol.2022.912780

In summary, we have evidenced an adverse effect of the deficit of frataxin in the formation and, most importantly, the growth cones’ function in adult DRG neurons by applying both classical and novel computer-assisted analysis. As a result, we propose that frataxin deficient DRG neurons might lose the intrinsic capacity to grow and regenerate axons properly due to the dysfunctional GCs they build.