Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophy - PubMed
4 days ago
- #Taurine Deficiency
- #Spinal Muscular Atrophy
- #Nusinersen Therapy
- Spinal Muscular Atrophy (SMA) is a genetic disorder caused by deficiency of the survival motor neuron (SMN) protein.
- SMA is associated with disruptions in neuroactive amino acid metabolism, affecting neurotransmission.
- Taurine, a critical neuromodulator in the developing CNS, is essential for synaptic function, osmoregulation, and neuroprotection.
- SMN deficiency leads to downregulation of taurine levels in the brainstem of SMNΔ7 mice and in the cerebrospinal fluid (CSF) of SMA1 patients.
- Nusinersen treatment restores taurine levels in SMA1 patients, demonstrating its therapeutic efficacy.
- Further research is needed to understand the mechanisms of taurine dysregulation in SMA and its role in disease pathology.