Graduate Research and Discovery Symposium (GRADS)

Advisor

Emil Alexov and Maria A. Miteva

Document Type

Poster

Department

Physics

Publication Date

Spring 2013

Abstract

Snyder-Robinson Syndrome (SRS) is an X-linked mental retardation disorder. Three missense mutations (G56S, V132G and I150T) on human spermine synthase (SMS) were reported to cause SRS. SMS is an important enzyme which converts spermindine into spermine, both of which are two polyamines controlling the normal cell growth and development. In vitro experiments showed that the dimer conformation played a crucial role on the SMS function. Our in silico studies including energy calculation, pKa calculation and molecular dynamics (MD) simulation based on the available 3D structure of SMS revealed that these mutations affected SMS function by affecting the dimer affinity, monomer stability or hydrogen bond network. One of the above sites, G56S, is accessible from the water phase, thus it provides the opportunity to rescue the disease-causing effect by binding an appropriate small molecule to the vicinity of the mutation site. Currently we run MD simulation to generate multiple receptor conformations and identified two potent binding pockets. Then two programs, Surflex and Autodock Vina, were applied for structure-based virtual screening (SBVS) and a consensus list of about 200 common compounds selected by both of the programs was created, and these compounds were tested experimentally by our collaborators.

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