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.

• Authors: Charles E Schwartz, Xaiojing Wang, Roger E Stevenson, Anthony E Pegg
• Journal: Methods in molecular biology (Clifton, N.J.) (Methods Mol Biol) Vol. 720 Pg. 437-45 ( 2011) ISSN: 1940-6029 [Electronic] United States
• PMID: 21318891 (Publication Type: Journal Article)

Chemical References

• Spermine
• Spermine Synthase
• Spermidine

Topics

• Enzyme Assays
• Female
• Genes, X-Linked (genetics)
• Humans
• Intellectual Disability (genetics)
• Male
• Mental Retardation, X-Linked (genetics)
• Mutation (genetics)
• Spermidine (metabolism)
• Spermine (metabolism)
• Spermine Synthase (deficiency, genetics)