Intrathecal delivery of frataxin mRNA encapsulated in lipid nanoparticles to dorsal root ganglia as a potential therapeutic for Friedreich’s ataxia

Joseph F. Nabhan, Kristy M. Wood, Varada P. Rao, Jeffrey Morin, Surya Bhamidipaty, Timothy P. LaBranche, Renea L. Gooch, Fazli Bozal, Christine E. Bulawa & Braydon C. Guild; Nature, Scientific Reports 6, Article number: 20019 (2016) doi:10.1038/srep20019

OPEN

When FXN LNPs were delivered by intrathecal administration, we detected recombinant human FXN protein in DRG. These observations provide the first demonstration that RTT can be used for the delivery of therapeutic mRNA to DRG.
Remarkably, greater than 50% mFXN protein derived from LNPs was detected seven days after intravenous administration of FXN LNPs, suggesting that the half-life of mFXN in vivo exceeds one week.

Understanding the Role of Mitochondrial Pathophysiology in Friedreich's Ataxia

Rosella Abeti, Michael H. Parkinson, Iain P. Hargreaves, Mark A. Pook, Andrey Y. Abramov, Paola Giunti, Biophysical Journal, Volume 110, Issue 3, Supplement 1, 16 February 2016, Page 474a, ISSN 0006-3495, doi:10.1016/j.bpj.2015.11.2534.

By using functional microscopy and biochemical techniques we were able to demonstrate that mitochondria are deregulated in neurons from the FRDA mouse models.