Italian researchers have been investigating taurine, a naturally occurring amino acid whose metabolism appears to be affected in proximal spinal muscular atrophy (SMA):
- they first demonstrated that taurine levels were significantly reduced in the central nervous system of a mouse model of SMA (SMND7), particularly in the brainstem;
- taurine levels subsequently measured in the cerebrospinal fluid of 37 patients with SMA showed the same pattern,
- taurine levels returned to normal in patients subsequently treated with nusinersen.
Although no causal link has been formally established between this reduction in taurine and the absence of SMN protein in SMA, this research contributes to a better understanding of the pathophysiology of this disease.
