Date: 2015-11-04
Type of
information: Publication of results in a medical journal
phase:
Announcement: publication of results in Nature
Company: Atyr Pharma (USA - CA)
Product:
Action
mechanism:
Disease: Charcot-Marie-Tooth disease type 2D (CMT2D)
Therapeutic
area: Rare diseases - Genetic diseases - Neurological diseases
Country:
Trial
details:
Latest
news:
- • On November 4, 2015, aTyr Pharma, a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address severe rare diseases, announced the discovery of a new Physiocrine pathway as a potential target for the treatment of Charcot-Marie-Tooth Disease Type 2D (CMT2D). This research was co-authored by Xiang-Lei Yang, Ph.D., professor at The Scripps Research Institute and co-founder of aTyr Pharma, and was published in the October 29, 2015 issue of Nature. This groundbreaking research was sponsored in part by aTyr Pharma, through an agreement with The Scripps Research Institute for research into aminoacyl tRNA synthetases, the largest gene family implicated in CMT.
- CMT2D is caused by a mutation in GARS, a gene that encodes a tRNA synthetase (GlyRS), which plays a canonical role in protein synthesis. This study demonstrated that the GARS mutation results in the dysregulation of a key cellular signaling pathway active in peripheral nerves: VEGF-Nrp1 that is required for cell survival. By restoring this pathway, nerve cell survival increased and disease symptoms were reduced. (CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase. Weiwei He, Ge Bai, Huihao Zhou, Na Wei, Nicholas M. White, Janelle Lauer, Huaqing Liu, Yi Shi, Calin Dan Dumitru, Karen Lettieri, Veronica Shubayev, Albena Jordanova, Velina Guergueltcheva, Patrick R. Griffin, Robert W. Burgess, Samuel L. Pfaff & Xiang-Lei Yang. Nature 526, 710–714 (29 October 2015) doi:10.1038/nature15510).
Is
general: Yes
