SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS

Lone, Museer A; Zeng, Sen; Bourquin, Florence; Wang, Mengli; Huang, Shunxiang; Lin, Zhiqiang; Tang, Beisha; Zhang, Ruxu; Hornemann, Thorsten

doi:10.5167/uzh-237229

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Lone, M. A., Zeng, S., Bourquin, F., Wang, M., Huang, S., Lin, Z., Tang, B., Zhang, R., & Hornemann, T. (2023). SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS. Biochimica and Biophysica Acta. Molecular and Cell Biology of Lipids, 1868, 159359. https://doi.org/10.1016/j.bbalip.2023.159359

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neuromuscular disease. Recently, several gain-of-function mutations in SPTLC1 were associated with juvenile ALS. SPTLC1 encodes for a subunit of the serine-palmitoyltransferase (SPT) - the rate-limiting enzyme in the de novo synthesis of sphingolipids (SL). SPT activity, and thus SL de novo synthesis, is tightly controlled by a homeostatic feedback mechanism mediated by ORMDL proteins. Here we report a novel SPTLC1p.L38R mutation in a young Chinese girl with a signature of