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Polyamines

Volume 720 of the series Methods in Molecular Biology pp 437-445

Date:

Spermine Synthase Deficiency Resulting in X-Linked Intellectual Disability (Snyder–Robinson Syndrome)

  • Charles E. SchwartzAffiliated withGreenwood Genetic Center, J.C. Self Research Institute Email author 
  • , Xaiojing WangAffiliated withDepartment of Cellular and Molecular Physiology, Milton S. Hershey Medical Center, Pennsylvania State University College of Medicine
  • , Roger E. StevensonAffiliated withGreenwood Genetic Center, J.C. Self Research Institute
  • , Anthony E. PeggAffiliated withCollege of Medicine, Milton S. Hershey Medical Center, Pennsylvania State University

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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.

Key words

Spermine Spermine synthase X-linked intellectual disability Snyder–Robinson ­syndrome Polyamine deficiency