The Association of V427M Missense Mutation of the PRODH Gene with Schizophrenia in the Iranian Patients

Background: PRODH is one of the genes that exists in 22q11.2 location and encodes the prolin oxidase enzyme (POX) in the mitochondrialinner membrane and is expressed in the liver, kidney and brain. The importance of the accompaniment of the PRODHgene’s polymorphisms and mutations in increasing the risk of getting afflicted with schizophrenia has been proven in previousLinkage and Association studies. Proline dehydrogenase enzyme (POX) accelerates the converting of prolin into glutamate. Decreasedenzyme causes hyperprolinemia resulting in increased proline and decreased glutamate. The activity of NMDA and AMPAreceptors decrease and low activation of these receptors cause negative symptoms of schizophrenia disorder. V427M mutation inPRODH has been proven to decrease pox enzyme activity and is associated with schizophrenia disorder.Objectives: In this project the rs2238731 variant in the PRODH gene was genotyped in 95 schizophrenic patients whose diseases arepsychiatrically confirmed and also in 120 healthy people without any history of schizophrenia and bipolarity in their pedigree. Forthis purpose, their peripheral blood was taken.Methods: In this study, the PCR-RFLP approach has been adopted in order to identify this variant. The SPSS 24.0 software has beenused in order to statistically analyze the association of mutant variants and normal variants among the two groups afflicted withthe disease and non-afflicted with the disease. The goal of this study was to shed light over the accompaniment of the rs2238731variant in the PRODH gene with the risk of getting afflicted with schizophrenia among the Iranian patients.Results: According to our result, there is no association between V427M missense mutation and schizophrenia disorder in Iranianpatients. So the V427M missense mutation could not be regarded as co-related with increasing risk of schizophrenia in Iranianpatients.

The Association of V427M Missense Mutation of the PRODH Gene with Schizophrenia in the Iranian Patients Keywords:

Schizophrenia , Single Nucleotide Polymorphism , Proline Dehydrogenase