Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome)
- PMID: 21318891
- DOI: 10.1007/978-1-61779-034-8_28
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome)
Abstract
Polyamines, small positively charged molecules, are vital for cell proliferation and differentiation. They are found ubiquitously in eukaryotic cells. Additionally, they interact with a wide range of other molecules and some membrane associated receptors. Polyamines, spermidine and spermine, are synthesized by two aminopropyltransferases, spermidine synthase and spermine synthase. Recently, mutations in the latter enzyme have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. Spermine synthase deficiency is thus far the only known polyamine deficiency syndrome in humans.
Similar articles
-
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.Eur J Hum Genet. 2003 Dec;11(12):937-44. doi: 10.1038/sj.ejhg.5201072. Eur J Hum Genet. 2003. PMID: 14508504
-
Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.Clin Chim Acta. 2011 Mar 18;412(7-8):655-60. doi: 10.1016/j.cca.2010.12.037. Epub 2011 Jan 8. Clin Chim Acta. 2011. PMID: 21219895
-
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.J Med Genet. 2008 Aug;45(8):539-43. doi: 10.1136/jmg.2007.056713. Epub 2008 Jun 11. J Med Genet. 2008. PMID: 18550699
-
The function of spermine.IUBMB Life. 2014 Jan;66(1):8-18. doi: 10.1002/iub.1237. Epub 2014 Jan 6. IUBMB Life. 2014. PMID: 24395705 Review.
-
Spermine synthase.Cell Mol Life Sci. 2010 Jan;67(1):113-21. doi: 10.1007/s00018-009-0165-5. Epub 2009 Oct 27. Cell Mol Life Sci. 2010. PMID: 19859664 Free PMC article. Review.
Cited by
-
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.Int J Mol Sci. 2016 Jan 8;17(1):77. doi: 10.3390/ijms17010077. Int J Mol Sci. 2016. PMID: 26761001 Free PMC article.
-
Polyamine catabolism and oxidative damage.J Biol Chem. 2018 Nov 30;293(48):18736-18745. doi: 10.1074/jbc.TM118.003337. Epub 2018 Oct 17. J Biol Chem. 2018. PMID: 30333229 Free PMC article. Review.
-
Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.EMBO Mol Med. 2023 Nov 8;15(11):e17833. doi: 10.15252/emmm.202317833. Epub 2023 Sep 13. EMBO Mol Med. 2023. PMID: 37702369 Free PMC article.
-
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.Nat Commun. 2017 Nov 2;8(1):1257. doi: 10.1038/s41467-017-01289-7. Nat Commun. 2017. PMID: 29097652 Free PMC article.
-
Over-expression of mouse ornithine decarboxylase gene under the control of fruit-specific promoter enhances fruit quality in tomato.Plant Mol Biol. 2015 Feb;87(3):249-60. doi: 10.1007/s11103-014-0273-y. Epub 2014 Dec 24. Plant Mol Biol. 2015. PMID: 25537646
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Medical