Spermidine supplementation in rare translation-associated disorders
Authors:Andreas Zimmermann1,2, Didac Carmona-Gutierrez1, and Frank Madeo1,2,3
1 Institute of Molecular Biosciences, NAWI Graz, University of Graz, Graz, Austria.
2 Field of Excellence BioHealth – University of Graz, Graz, Austria.
3 BioTechMed-Graz, Graz, Austria.
Keywords:
eIF5A, hypusination, translation, rare disease, spermidine, Kabuki syndrome.
Corresponding Author(s):
Conflict of interest statement:
D.C.-G. and F.M. have equity interests in The Longevity Labs (TLL), a company founded in 2016 that develops natural food extracts.
Please cite this article as:
Andreas Zimmermann, Didac Carmona-Gutierrez and Frank Madeo (2021). Spermidine supplementation in rare translation-associated disorders. Cell Stress 5(3): 29-32. doi: 10.15698/cst2021.03.243
© 2021 Zimmermann et al. This is an open-access article released under the terms of the Creative Commons Attribution (CC BY) license, which allows the unrestricted use, distribution, and reproduc-tion in any medium, provided the original author and source are acknowledged.
Abstract:
The polyamine spermidine is essential for protein translation in eukaryotes, both as a substrate for the hypusination of the translation initiation factor eIF5A as well as general translational fidelity. Dwindling spermidine levels during aging have been implicated in reduced immune cell function through insufficient eIF5A hypusination, which can be restored by external supplementation. Recent findings characterize a group of novel Mendelian disorders linked to EIF5A missense and nonsense variants that cause protein translation defects. In model organisms that recapitulate these mutations, spermidine supplementation was able to alleviate at least some of the concomitant protein translation defects. Here, we discuss the role of spermidine in protein translation and possible therapeutic avenues for translation-associated disorders.