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Showing 2 results for Nazemalhosseini-Mojarad
Germline mutation at codon 1309 of the adenomatous polyposis coli gene and exteracolonic manifestations in familial adenomatous polyposis
Faegheh Behboudi Farahbakhsh, Hossein Maghsoudi, Hamid Asadzadeh Aghdaei , Ehsan Nazemalhosseini-Mojarad,
Volume 75, Issue 4 (July 2017)
Abstract
Background: Familial adenomatous polyposis (FAP) is the most common components polyposis syndromes. It incidence is for less than 1 percent of colorectal cancer cases. FAP is characterized by germline mutations in the adenomatous polyposis coli (APC) gene. Generally, there are hundreds to thousands of adenomatous polyps in colon and rectum of patients. The aim of the current study was to evaluate the germline mutation at codon 1309 of the APC gene and its association with extracolonic manifestations in Iranian patients with FAP.
Methods: This Cross-sectional study was conducted at the Gastroenterology and Liver Diseases Research Center, Taleghani Hospital, Tehran, Iran from July 2012 to February 2015. In this study, thirty-three patient with FAP was examined. Demographic and clinical data were gathered from patients. In addition, peripheral blood samples were collected to study the most common mutations of the APC gene and bidirectional sequencing was carried out after genomic DNA extraction by salting out method. Primers were designed by GeneRunner version 5.0.4 (http://www.generunner.com). The samples were run on an applied biosystems 3130XL genetic analyzer. The results were analyzed by SPSS software, version 23 (IBM, Armonk, NY, USA).
Results: After analyzing the mutation cluster region (MCR), we have identified five germline mutations with 5bp deletion at codon 1309 of the APC gene (c.3927_3931delAAAGA), that it is equivalent to 15.2% (5.33). This mutation has been known as a small deletion, that it is a variant of frameshift mutation. Mutation at codon 1309 has significant association with clinical and pathological features including the number of polyps (P=0.001), duodenum demonstration (P=0.008), fundic gland polyp (P=0.002) and congenital hypertrophy of the retinal pigment epithelium (P=0.021).
Conclusion: The analysis of the findings has shown that mutation in Codon 1309 of adenomatous polyposis coli gene may be associated with severe polyposis and extracolonic manifestations. In conclusion, there may be a correlation between a specific germline mutation and the extracolonic manifestations.

A quantitative investigation of the Bid gene expression in biopsies from colorectal adenomas
Fateme Sadat Kia , Ehsan Nazemalhosseini-Mojarad, Flora Forouzesh,
Volume 76, Issue 2 (May 2018)
Abstract
Background: Most of colorectal cancers arise from intestinal polyps. Evaluating of the expression level of genes that are involved in tumors growth and development, may consider as diagnostic factor of malignancy in the polyps. Failure of apoptosis is one of the causes of cancers. One of the key molecules in this pathway is Bid gene which connects the extrinsic to the intrinsic apoptosis pathways. The aim of this study was to investigate the quantitative expression of Bid gene in colorectal adenomatous polyps compared to control group.
Methods: The investigated population was chosen from the cases with colonic polyps that referred to the Taleghani Hospital, Tehran, Iran, from April 2014 to May 2016. 22 biopsy samples from patients with adenomatous polyps and 10 samples from healthy individuals as control group were selected. Demographic and clinical properties were collected from patients' files. The Bid gene expression was evaluated using Real-time PCR by ABI 7500 (Applied Biosystems Inc., Foster City, CA, USA). Results were analyzed by the ABI 7500 system SDS version 2.3 and GraphPad Prism, version 5 (GraphPad Software Inc., La Jolla, CA, USA). the expression changes of the intended gene in target groups were compared with the normal tissues using the 2-∆∆CT equation.
Results: Based on the quantitative real-time PCR, the gene expression of Bid gene significantly increased in adenomatous polyps in comparison with the control group (healthy individuals) (RQ>2). Also, polyps were seen in ascending colon, transverse colon, descending colon and rectum showed increased expression compared to control group, but in the sigmoid section of the intestine, there was no change in expression of Bid gene compared to control group.
Conclusion: According to the present study, the expression of Bid gene increased in adenomatous polyps, compared with the normal tissue (healthy group). It suggests that Bid gene by increasing the expression in response to the onset of dysplasia and disruption of the apoptotic cycle, it tries to compensate for the apoptosis.

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