Biology & Genetic
Shadi Hosseini; Farkhondeh Behjati; Maryam Rahimi; Nazanin Taheri; Hamid Reza Khorram Khorshid; Fatemehte Aghakhani Moghaddam; Saghar Ghasemi Frouzabadi; Masoud Karimlou; Fereidoon Sirati; Elahe Keyhani
Volume 13, Issue 4 , October 2018, , Pages 447-453
Abstract
Background and Objective: The PI3K/AKT/mTOR pathway is known to play an important role in regulating angiogenesis both in normal and breast cancer (BC) tissues. PIK3CA amplification was reported in various malignancies, including approximately 10% of BC cases. The aim of this study was to identify the ...
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Background and Objective: The PI3K/AKT/mTOR pathway is known to play an important role in regulating angiogenesis both in normal and breast cancer (BC) tissues. PIK3CA amplification was reported in various malignancies, including approximately 10% of BC cases. The aim of this study was to identify the frequency of PIK3CA amplification in Iranian female patients suffering from BC. Additionally, possible association between PIK3CA amplification and P110α expression with microvascular density (MVD) was examined.Methods: DNA samples were extracted from paraffin embedded tumor tissue blocks and copy number changes were evaluated by MLPA Technique. The results were analyzed by coffalyzer software. The tissue expression of P110α and CD34 was assessed using immunohistochemistry.Results: Ten out of 40 samples (17.5%) showed amplification in PIK3CA gene and 22 out of 40 samples (55%) showed overexpression in P110α. For CD34, from 40 samples, 20 (50%), 15 (37.5%) and 5 (12.5%) had scores 1+, 2+ and 3+, respectively.Conclusion: No significant association was detected between gain of PIK3CA copy number and P110α or CD34 tissue expression.
Fahimeh Mousavi; Mehrdad Noruzinia; Elahe Keyhani; Feridoon Seirati; Samira Rezaei; Forough Mojtahedi; Farkhondeh Behjati
Volume 9, Issue 2 , April 2014, , Pages 117-123
Abstract
Background and Objective: The DBC2 (deleted in breast cancer 2) or RhoBTB2 (Located on 8p21) is a tumor suppressor gene associated with tumorigenesis. Mutational studies of DBC2 at its promoter region in breast cancer revealed an important role for epigenetic changes contributing to its low expression. ...
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Background and Objective: The DBC2 (deleted in breast cancer 2) or RhoBTB2 (Located on 8p21) is a tumor suppressor gene associated with tumorigenesis. Mutational studies of DBC2 at its promoter region in breast cancer revealed an important role for epigenetic changes contributing to its low expression. Epigenetic changes through hypermethylation of the promoter can cause the inactivation of DBC2 gene. The purpose of this study was to investigate methylation pattern of DBC2 gene in the peripheral blood of 40 Iranian women with breast cancer and its comparison with healthy women.
Material & Methods: We used peripheral blood samples from 40 patients with sporadic breast cancer and 40 normal individuals. Analysis of the methylation statues of DBC2 promoter region was done by MSP (Methylation Specific PCR ) technique on the DNA extracted from the blood samples. The results were validated by sequencing. The methylation status was then correlated with the clinicopathological parameters of breast cancer patients.
Results:Methylation pattern was detected in 60% of the patients, whereas 25% of the normal individuals demonstrated a positive methylation pattern (P ≤ 0.01, odd ratio : 2.143). No significant correlation was obtained between methylated DBC2 and cliniclpathological parameters.
Discussion: Aberrant hypermethylation was observed preferentially in the patients. These findings along with the previous studies, propose that abnormal methylation pattern in DBC2 promoter region may be one of the main reasons for low expression of DBC2 in breast cancer and this hypermethylation pattern could play a fundamental role in the breast tumorigenesis.
Elahe Keyhani
Volume 7, Issue 2 , April 2012, , Pages 63-69
Abstract
Muscle biopsy has been used for a long time for diagnosis of muscular, nerurogenic and systemic disorders with muscle involvement, because only very few of these disorders show sufficient specific clinical features for definite diagnosis. Since the presence of difficulties in the screening of numerous ...
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Muscle biopsy has been used for a long time for diagnosis of muscular, nerurogenic and systemic disorders with muscle involvement, because only very few of these disorders show sufficient specific clinical features for definite diagnosis. Since the presence of difficulties in the screening of numerous genes, muscle biopsy could be a time and cost effective procedure for solving the diagnostic problems. The aim of this article is to mention the importance of muscle tissue in the evaluation of primary and secondary muscle diseases, special consideration of how to biopsy, handling the specimen and performing the special staining, and the microscopic findings in order to have better interpretation results.
Elahe Keyhani; Jalal Gharesouran; Kimia Kahrizi; Yousef Shafeghati; Hossein Najmabadi; Mehdi Banan; Fatemeh Moghaddam; Elham Darabi
Volume 5, Issue 1 , January 2010, , Pages 2-8
Abstract
Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. ...
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Background and Objective: Becker Muscular Dystrophy (BMD) is a subtype of dystrophinopathies and designated as “mild form of dystrophinopathy”. The frequency rate of the disease is 1:18000 to 1:30000 in different populations and the symptoms are presented at about 8-9 years of age. The diagnostic panel composed of Serum Ceratin Kinase (SCK) measurement, Electromyography (EMG), and as a major component, muscle biopsy and immunohistochemistry for dystrophines; finally the results should be confirmed by Western blot (WB) analysis, which is a sensitive method for protein detection. The aim of this study was using utrophin, an autosomal homologue for dystrophin, which is upregulated in dystrophinopathies, parallel to WB in order to evaluate its diagnostic value. Materials & Methods: In this case-control study, fifteen clinically suspected cases of BMD were examined from 2006 to 2008. After muscle biopsy and dystrophin IHC, the muscle samples were immunostained for utrophin and the tissue extract were analyzed for protein components. Results: In all of the cases, the results revealed partial staining for utrophin in the sarcolemma and pale or distorted band of dystrophin in WBA. Conclusion: Utrophin immunostain could be considered as an important component of BMD diagnostic panel and may be substituted for WBA, which is an expensive and time-consuming method.