A point mutation at the calreticulin gene core promoter conserved sequence in a case of schizophrenia

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
Ali AghajaniMina Ohadi

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.

References

Aug 11, 1997·The Journal of Cell Biology·M WaserM Michalak
May 28, 1998·The Journal of Biological Chemistry·H LiuJ L Stevens
Feb 29, 2000·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·C BownL T Young
Jun 20, 2002·Bipolar Disorders·Christopher D BownL Trevor Young
Oct 29, 2002·Developmental Neuroscience·Steven K DrakeTracey A Rouault
Sep 1, 2004·Journal of Neural Transmission·T M MichelE Koutsilieri

❮ Previous
Next ❯

Citations

Jun 27, 2012·The Journal of Cell Biology·Shiyu Wang, Randal J Kaufman
Apr 18, 2012·Progress in Neuro-psychopharmacology & Biological Psychiatry·M OhadiH Darvish
Sep 18, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·M Olad NabiM Ohadi
Jul 5, 2011·Progress in Neuro-psychopharmacology & Biological Psychiatry·E Esmaeilzadeh-GharehdaghiM Ohadi
Dec 25, 2010·Progress in Neuro-psychopharmacology & Biological Psychiatry·T FarokhashtianiM Ohadi
May 3, 2016·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·LiChun Zhang, Hong-Hui Wang
Apr 25, 2019·ACS Chemical Neuroscience·Vignesh KotianPallab Bhattacharya

❮ Previous
Next ❯

Related Concepts

Related Feeds

Bipolar Disorder

Bipolar disorder is characterized by manic and/or depressive episodes and associated with uncommon shifts in mood, activity levels, and energy. Discover the latest research this illness here.