Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Conclusions Specific gain-of-function mutations in both core subunits affect the homoeostatic control of SPT. SPTLC2 represents a new Mendelian ALS gene, highlighting a key role of dysregulated sphingolipid synthesis in the pathogenesis of juvenile ALS. Given the direct interaction of SPTLC1 and SPTLC2, this knowledge might open new therapeutic avenues for motor neuron diseases.

http://jnnp.bmj.com/cgi/content/short/95/3/201?rss=1

Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Dohrn, M. F., Beijer, D., Lone, M. A., Bayraktar, E., Oflazer, P., Orbach, R., Donkervoort, S., Foley, A. R., Rose, A., Lyons, M., Louie, R. J., Gable, K., Dunn, T., Chen, S., Danzi, M. C., Synofzik, M., Bönnemann, C. G., Nazlı Basak, A., H Tags: Neurogenetics Source Type: research