Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophy

20260 citationsJournal Articlegold Open Access

Authors

Raffaella di Vito · University of Campania "Luigi Vanvitelli"

Amber Hassan · European School of Molecular Medicine

Tommaso Nuzzo · University of Campania "Luigi Vanvitelli"

Anna Caretto · Neuroscience Institute

Chiara Panicucci · Istituto Giannina Gaslini

Claudio Bruno · Istituto Giannina Gaslini

Enrico Bertini

Abstract

These findings demonstrate that SMN deficiency dysregulates taurine homeostasis in the CNS of overt symptomatic mouse models and SMA1 patients. They also reveal the therapeutic efficacy of Nusinersen treatment in correcting this amino acid deficit. However, further research is needed to determine the mechanisms by which SMN deficiency causes taurine dysregulation and its potential contribution to SMA pathology.

Topics & Keywords

Neurogenetic and Muscular Disorders Research Muscle Physiology and Disorders Peroxisome Proliferator-Activated Receptors

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Communications Medicine

DOI: 10.1038/s43856-026-01434-8

Field-Weighted Citation Impact: 0.00