Evaluation of DISC Evaluation of DISC1 gene rs3738401
داﻧﺸﮕﺎه ﻋﻠﻮم ﭘﺰﺷﻜﻲ و ﺧﺪﻣﺎت ﺑﻬﺪاﺷﺘﻲ و درﻣﺎﻧﻲ آذرﺑﺎﻳﺠﺎن ﻏﺮﺑﻲ Evaluation of DISC1 DISC1 gene rs3738401 rs3738401 polymorphism in Iranian patients i affected ff d by b SSchizophrenia hi h i andd iindividuals di id l Presented by: narmin mokarizadeh Department of Biochemistry, School of Medicine, Urmia University of M di l SScience, Medical i U i , Iran Urmia, Urmia I Introduction Schizophrenia (SCZ) is a complex psychiatric disorder characterized by: Hallucinations and delusions Disorganized speech cognitive impairment disturbances in emotions and social functioning Changes in memory and will defined by a group of characteristic positive and negative symptoms Negative Positive Deficiency D fi i off speechh Absence of emotion surface reactions Loss of will Hallucinations H ll i ti Delusions Bizarre behaviour Aberrant reactions Escape from the community Disorganized speech Diagnosis is based on observed manners and reported experiences g p speech Disorganized Onset from adolescence to age 45 (Men have earlier onset ((20 20--28) 28) than women (26 (26--32). 32). affects approximately 0.5–1.0% of the global population Abnormal brain structure and function Underactive frontal lobes and overactive parietal lobes are thought to cause some of schizophrenia’s associated symptoms genetics, epigenetics and environment are important contributing ib i ffactors One ggene frequently q y associated with schizophrenia p is the Disrupted in Schizophrenia Gene 1 (DISC DISC11) A recent review of all genes associated with risk prediction p identified DISC DISC11 as the topp candidate for schizophrenia (Ayalew et al., 2012) 2012) DISC1 is a moderately conserved gene that highly expressed in the central DISC1 nervous system, particularly in the hippocampus and the cerebral cortex codes for a 93. 93.6-kDa protein of 854 amino acids plays a role in both neural signalling and development Three common missense mutations in DISC DISC11 R264 264QQ (rs3738401 (rs3738401)) L607 607FF (rs6675281 (rs6675281)) S704 704CC (rs (rs821616 821616)) have been variably associated with the risk of schizophrenia The prevalence of mental illness (particullarly (particullarly SCZ) in our community is 23..6% (14% 23 14% of the total disease in iran iran)) In this study we examined the DISC DISC11 gene rs rs3738401 3738401 polymorphism And to assess its association with S hi h i we ddetermined Schizophrenia, t i d All Allelel andd genotype t frequencies of rs3738401 rs3738401 polymorphism in an Iranian population Material and Methods ¾ ¾ ¾ 71 patients with Schizophrenia After diagnosis based on the approved clinical protocols and Diagnostic and Statistical Manual (DSM (DSM--IV), IV), and 140 healthy controls Genomic DNA from venous blood samples were isolated using DNA Extraction Kit PGS (Model: PGS0051 PGS0051)) in accordance with manufacturer's instructions. DNA were quantified with the NanoDrop technology The DISC1 DISC1 gene rsrs3738401 3738401 polymorphism genotyping was performed base on the amplification amplification--refractory mutation sequencing (ARMS) assay Primer sequence ¾ FC 5’- GTT CCT TTC CCC AGC AGT G -3’ RN 5’-AGA ATG CAT GTC ACG CTC C -3’ RM 5’-AGA ATG CAT GTC ACG CTC T -3’ Statistical analyses were conducted using with the SPSS software version18 version 18.. Chi Chi-- square test (χ (χ2), was used to check the association between ,two categorical variables or even to detect difference between several proportions Results Results Patients showed an extensively increased frequency of the rsrs3738401 3738401 polymorphism allele compared with controls. there were significantly correlation between DISC1 DISC1 gene rsrs3738401 3738401 ppolymorphism y p and Schizophrenia. p Therefore,, DISC11 gene rsrs3738401 DISC 3738401 polymorphism may be a genetic predisposing di i ffactor t ffor SSchizophrenia hi h i p in Iranian ppopulation. Thankss for Than f r yyour ur aattention nin
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