title: A point mutation at the calreticulin gene core promoter conserved sequence in a case of schizophrenia.
abstract: Exposure to atypical antipsychotic drugs such as valproate increases the expression of chaperones that assist in the folding of proteins in the endoplasmic reticulum (ER) including calreticulin, GRP78/BiP, GRP94, and PD1. This neuroprotective role may be involved in the pathophysiology of neuropsychiatric disorders such as schizophrenia and bipolar disorder. The 5'-flanking region of the human calreticulin gene was screened in 100 cases of schizophrenia by PCR/SSCA between -485 and +1 basepair (bp) relative to the transcription start site. A G > C point mutation was detected at -48 in a case of paranoid schizophrenia, which was not detected in 280 unrelated control subjects (560 chromosomes). This is the first report of mutation in relation with the calreticulin gene. The -48G > C mutation creates a CpG site at the core promoter region of the gene. The role of this mutation remains to be clarified in the pathophysiology of the disease.
authors.affiliation: Genetics Research Center, University of Social Welfare and Rehabilitation Sciences Evin, Tehran, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Aghajani
authors.forename: Alireza
authors.initials: A
authors.lastname: Rahimi
authors.forename: Farbod
authors.initials: F
authors.lastname: Fadai
authors.forename: Ahmad
authors.initials: A
authors.lastname: Ebrahimi
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Mina
authors.initials: M
authors.lastname: Ohadi
mesh_terms: D000328:Adult; D001483:Base Sequence; D037282:Calreticulin / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D004252:DNA Mutational Analysis; D000091342:Endoplasmic Reticulum Chaperone BiP; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D037282:Calreticulin; D000091342:Endoplasmic Reticulum Chaperone BiP; C000717247:HSPA5 protein, human