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  1. Article ; Online: In Silico and In Vitro Analyses of PNPLA3 rs738409 C>G Polymorphism in Patients With Non-alcoholic Fatty Liver Disease

    Fatemeh Safari / Zeinab Imani-Saber / Sima Mozafari / Saeed Lotfi / Nahid Einollahi

    Disease and Diagnosis, Vol 11, Iss 4, Pp 156-

    2022  Volume 165

    Abstract: Background: The polymorphism associated with liver fat content, which is well-known as PNPLA3 rs738409 (Patatin-like phospholipase domain-containing protein 3), is one of the critical subjects widely investigated in the literature regarding the ... ...

    Abstract Background: The polymorphism associated with liver fat content, which is well-known as PNPLA3 rs738409 (Patatin-like phospholipase domain-containing protein 3), is one of the critical subjects widely investigated in the literature regarding the prevalence of non-alcoholic fatty liver disease (NAFLD) worldwide. The present research aimed to study the bioinformatics investigations of this polymorphism together with the in vitro analyses among patients with NAFLD. Materials and Methods: In this case-control study, after performing bioinformatics analysis, the laboratory examination was performed in several steps. Genomic DNA was extracted from the blood of 53 NAFLD patients and 107 subjects with normal liver ultrasounds. PNPLA3 rs738409 was genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. The laboratory test results, including fasting blood sugar, triglyceride, cholesterol, high-density lipoprotein, low-density lipoprotein, alanine aminotransferase, and aspartate aminotransferase were collected from medical records. Finally, statistical analysis was performed using SPSS software, version 18.0. Results: The frequency of the G allele was 56% and 36% among patients and in the control group, respectively. The frequency of genotypes was 35.8% and 47.7% (CC), 17% and 31.8% (CG), 47.2% and 20.6% (GG) in patients and control groups, respectively. The adjusted odds ratios for PNPLA3 rs738409 C>G were 3.0 (95% confidence interval [CI]: 1.28-6.98, P=.011) and 0.68 (95% CI: 0.25- 1.83, P = .44) for GG and CG genotypes, respectively. Conclusion: The findings showed the association between the GG genotype and the presence of NAFLD. Furthermore, the bioinformatics findings suggested the probable risk of the disease incidence regarding the change of hydropathic characteristics resulting from the amino acid substitution.
    Keywords non-alcoholic fatty liver disease ; pnpla3 ; adiponutrin ; polymorphism ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2022-12-01T00:00:00Z
    Publisher Hormozgan University of Medical Sciences
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article: Variable Clinical Manifestations of COVID-19;Viral and Human Genomes Talk

    Imani-Saber, Zeinab Vaseghi Hajar Mahdian Mojdeh Safari Fatemeh Ghadami Mohsen

    Iranian Journal of Allergy, Asthma & Immunology

    Abstract: The new coronavirus, known as "SARS-CoV-2";is the cause of one of the most prevalent infectious viral diseases that was recently announced pandemic by the world health organization Ongoing research in the fields of prevention, management, and therapy ... ...

    Abstract The new coronavirus, known as "SARS-CoV-2";is the cause of one of the most prevalent infectious viral diseases that was recently announced pandemic by the world health organization Ongoing research in the fields of prevention, management, and therapy establishes a functional scaffold for clinics during the time of crisis To obtain this goal, it is necessary that all pathophysiologic aspects of COVID-19 from infection to predisposing backgrounds of infection be identified, so that all the ambiguities of researchers regarding transmission mechanisms, variable clinical manifestation, and therapeutic response can be solved Here, we firstly discuss about the homology screening between nCoV-2019 and betacoronavirus family using phylogenetic analyses Secondly, we analyzed the viral motifs to show that viral entry into the host cells requires a primary activation step performed by FURIN and FURIN-like-mediated enzymatic cleavage on the structural glycoprotein The cleavage increases viral performance by 1000 folds We then present a comprehensive view on host cells and the significance of gene variants affecting activation enzymes, supportive entry, and spread mechanisms in humans including renin-angiotensin-aldosterone system (RAAS) a pathway results in certain phenotypes or exacerbate infection-related phenotypes in different organs, hence causes variable clinical manifestations This is followed by discussing about the importance of personalized medicine in nCoV-2019 exposure Moreover, chemical drugs prescribed for individuals affected with COVID-19, as well as genes involved in drug transport and metabolisms are reviewed as a prelude to drug response Finally, we suggest some therapeutic approaches developed based on new methods and technology such as anti-sense therapy and antibodies [ABSTRACT FROM AUTHOR] Copyright of Iranian Journal of Allergy, Asthma & Immunology is the property of Tehran University of Medical Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission However, users may print, download, or email articles for individual use This abstract may be abridged No warranty is given about the accuracy of the copy Users should refer to the original published version of the material for the full abstract (Copyright applies to all Abstracts )
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #887842
    Database COVID19

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  3. Article ; Online: Variable Clinical Manifestations of COVID-19: Viral and Human Genomes Talk.

    Imani-Saber, Zeinab / Vaseghi, Hajar / Mahdian, Mojdeh / Safari, Fatemeh / Ghadami, Mohsen

    Iranian journal of allergy, asthma, and immunology

    2020  Volume 19, Issue 5, Page(s) 456–470

    Abstract: The new coronavirus, known as "SARS-CoV-2"; is the cause of one of the most prevalent infectious viral diseases that was recently announced pandemic by the world health organization. Ongoing research in the fields of prevention, management, and therapy ... ...

    Abstract The new coronavirus, known as "SARS-CoV-2"; is the cause of one of the most prevalent infectious viral diseases that was recently announced pandemic by the world health organization. Ongoing research in the fields of prevention, management, and therapy establishes a functional scaffold for clinics during the time of crisis. To obtain this goal, it is necessary that all pathophysiologic aspects of COVID-19 from infection to predisposing backgrounds of infection be identified, so that all the ambiguities of researchers regarding transmission mechanisms, variable clinical manifestation, and therapeutic response can be solved. Here, we firstly discuss about the homology screening between nCoV-2019 and beta-coronavirus family using phylogenetic analyses. Secondly, we analyzed the viral motifs to show that viral entry into the host cells requires a primary activation step performed by FURIN and FURIN-like-mediated enzymatic cleavage on the structural glycoprotein. The cleavage increases viral performance by 1000 folds. We then present a comprehensive view on host cells and the significance of gene variants affecting activation enzymes, supportive entry, and spread mechanisms in humans including renin-angiotensin-aldosterone system (RAAS) a pathway results in certain phenotypes or exacerbate infection-related phenotypes in different organs, hence causes variable clinical manifestations. This is followed by discussing about the importance of personalized medicine in nCoV-2019 exposure. Moreover, chemical drugs prescribed for individuals affected with COVID-19, as well as genes involved in drug transport and metabolisms are reviewed as a prelude to drug response. Finally, we suggest some therapeutic approaches developed based on new methods and technology such as anti-sense therapy and antibodies.
    MeSH term(s) ADAM17 Protein/genetics ; ADAM17 Protein/metabolism ; Angiotensin II Type 1 Receptor Blockers/therapeutic use ; Angiotensin-Converting Enzyme 2/genetics ; Angiotensin-Converting Enzyme 2/metabolism ; Angiotensin-Converting Enzyme Inhibitors/therapeutic use ; Anti-Bacterial Agents/therapeutic use ; Azithromycin/therapeutic use ; Betacoronavirus/genetics ; COVID-19/drug therapy ; COVID-19/genetics ; COVID-19/physiopathology ; COVID-19/transmission ; Enzyme Inhibitors/therapeutic use ; Furin/genetics ; Furin/metabolism ; Genetic Predisposition to Disease ; Genome, Human ; Genome, Viral ; Humans ; Hydroxychloroquine/therapeutic use ; Phylogeny ; Precision Medicine ; Receptors, Coronavirus/genetics ; Receptors, Coronavirus/metabolism ; Renin-Angiotensin System/genetics ; SARS-CoV-2/genetics ; Serine Endopeptidases/genetics ; Serine Endopeptidases/metabolism ; Spike Glycoprotein, Coronavirus/genetics ; Spike Glycoprotein, Coronavirus/metabolism ; Virus Internalization
    Chemical Substances Angiotensin II Type 1 Receptor Blockers ; Angiotensin-Converting Enzyme Inhibitors ; Anti-Bacterial Agents ; Enzyme Inhibitors ; Receptors, Coronavirus ; Spike Glycoprotein, Coronavirus ; spike protein, SARS-CoV-2 ; Hydroxychloroquine (4QWG6N8QKH) ; Azithromycin (83905-01-5) ; ACE2 protein, human (EC 3.4.17.23) ; Angiotensin-Converting Enzyme 2 (EC 3.4.17.23) ; Serine Endopeptidases (EC 3.4.21.-) ; TMPRSS2 protein, human (EC 3.4.21.-) ; FURIN protein, human (EC 3.4.21.75) ; Furin (EC 3.4.21.75) ; ADAM17 Protein (EC 3.4.24.86) ; ADAM17 protein, human (EC 3.4.24.86)
    Language English
    Publishing date 2020-10-18
    Publishing country Iran
    Document type Journal Article ; Review
    ZDB-ID 2488724-9
    ISSN 1735-5249 ; 1735-1502
    ISSN (online) 1735-5249
    ISSN 1735-1502
    DOI 10.18502/ijaai.v19i5.4461
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Plasma Levels of MicroRNA-146a-5p, MicroRNA-24-3p, and MicroRNA-125a-5p as Potential Diagnostic Biomarkers for Rheumatoid Arthris.

    Safari, Fatemeh / Damavandi, Elia / Rostamian, Abdol-Rahman / Movassaghi, Shafieh / Imani-Saber, Zeinab / Saffari, Mojtaba / Kabuli, Majid / Ghadami, Mohsen

    Iranian journal of allergy, asthma, and immunology

    2021  Volume 20, Issue 3, Page(s) 326–337

    Abstract: Rheumatoid arthritis (RA) is an autoimmune disease that is characterized by inflammation of the articular tissue. This study aims to evaluate the expression of microRNA (miR)-146a-5p, miR-24-3p, and miR-125a-5p in the plasma of RA patients and compare ... ...

    Abstract Rheumatoid arthritis (RA) is an autoimmune disease that is characterized by inflammation of the articular tissue. This study aims to evaluate the expression of microRNA (miR)-146a-5p, miR-24-3p, and miR-125a-5p in the plasma of RA patients and compare them with those of healthy controls to obtain a specific expression profile for earlier diagnosis and assistance in treating patients. This study was performed on 50 RA patients and 50 healthy controls. Five microliters of blood were taken from each patient/control. Plasma RNA was extracted using the Trisol solution. cDNAs were synthesized; using moloney murine leukemia virus (MMLV) and deoxynucleoside triphosphate (dNTP). Real-time PCR was performed using SYBR green kit. The mean expression of miR-146a-5p, miR-24-3p, and miR-125a-5p in the RA group were 8.1±1.9, 6.5±1.2, and 6.8±2.2 and in the healthy group were 4.8±1.6, 3.6±2.2, and 3.4±1.7, respectively. Significant differences were also observed in the mean expression of these three miRNAs in four subgroups of RA patients with different disease activity based on disease activity score 28 (DAS28) (p<0.05). ROC curve analysis showed that miR-146a-5p (AUC=0.8, sensitivity= 96%, specificity=86%), miR-24-3p (AUC=0.7, Sensitivity=95%, Specificity=75%) and miR-125a-5p (AUC=0.71, sensitivity=93%, specificity=84%) could be used as suitable biomarkers for RA diagnosis. Increased expressions of miR-146a-5p, miR-24-3p, and miR-125a-5p in RA patients indicate that the miRNAs are involved in disease incidence and progression, and the measurement of their expression can play an essential role in the diagnosis and treatment of the disease.
    MeSH term(s) Adult ; Arthritis, Rheumatoid/blood ; Arthritis, Rheumatoid/diagnosis ; Arthritis, Rheumatoid/genetics ; Biomarkers/blood ; Case-Control Studies ; Circulating MicroRNA/blood ; Circulating MicroRNA/genetics ; Female ; Humans ; Male ; MicroRNAs/blood ; MicroRNAs/genetics ; Middle Aged ; Predictive Value of Tests ; Prognosis ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Up-Regulation
    Chemical Substances Biomarkers ; Circulating MicroRNA ; MIRN125 microRNA, human ; MIRN146 microRNA, human ; MIRN24 microRNA, human ; MicroRNAs
    Language English
    Publishing date 2021-06-06
    Publishing country Iran
    Document type Journal Article
    ZDB-ID 2488724-9
    ISSN 1735-5249 ; 1735-1502
    ISSN (online) 1735-5249
    ISSN 1735-1502
    DOI 10.18502/ijaai.v20i3.6334
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Variable Clinical Manifestations of COVID-19

    Zeinab Imani-Saber / Hajar Vaseghi / Mojdeh Mahdian / Fatemeh Safari / Mohsen Ghadami

    Iranian Journal of Allergy, Asthma and Immunology, Vol 19, Iss

    Viral and Human Genomes Talk

    2020  Volume 5

    Abstract: The new coronavirus, known as “SARS-CoV-2”; is the cause of one of the most prevalent infectious viral diseases that was recently announced pandemic by the world health organization. Ongoing research in the fields of prevention, management, and therapy ... ...

    Abstract The new coronavirus, known as “SARS-CoV-2”; is the cause of one of the most prevalent infectious viral diseases that was recently announced pandemic by the world health organization. Ongoing research in the fields of prevention, management, and therapy establishes a functional scaffold for clinics during the time of crisis. To obtain this goal, it is necessary that all pathophysiologic aspects of COVID-19 from infection to predisposing backgrounds of infection be identified, so that all the ambiguities of researchers regarding transmission mechanisms, variable clinical manifestation, and therapeutic response can be solved. Here, we firstly discuss about the homology screening between nCoV-2019 and beta-coronavirus family using phylogenetic analyses. Secondly, we analyzed the viral motifs to show that viral entry into the host cells requires a primary activation step performed by FURIN and FURIN-like-mediated enzymatic cleavage on the structural glycoprotein. The cleavage increases viral performance by 1000 folds. We then present a comprehensive view on host cells and the significance of gene variants affecting activation enzymes, supportive entry, and spread mechanisms in humans including renin-angiotensin-aldosterone system (RAAS) a pathway results in certain phenotypes or exacerbate infection-related phenotypes in different organs, hence causes variable clinical manifestations. This is followed by discussing about the importance of personalized medicine in nCoV-2019 exposure. Moreover, chemical drugs prescribed for individuals affected with COVID-19, as well as genes involved in drug transport and metabolisms are reviewed as a prelude to drug response. Finally, we suggest some therapeutic approaches developed based on new methods and technology such as anti-sense therapy and antibodies.
    Keywords Angiotensin-converting enzyme 2 ; Coronavirus ; FURIN protein ; Personalized medicine ; Severe acute respiratory syndrome coronavirus 2 ; Medicine ; R
    Subject code 572
    Language English
    Publishing date 2020-10-01T00:00:00Z
    Publisher Tehran University of Medical Sciences
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: In Silico Interaction and Docking Studies Indicate a New Mechanism for PML Dysfunction in Gastric Cancer and Suggest Imatinib as a Drug to Restore Function.

    Imani-Saber, Zeinab / Ghafouri-Fard, Soudeh

    Asian Pacific journal of cancer prevention : APJCP

    2015  Volume 16, Issue 12, Page(s) 5005–5006

    Abstract: Gastric cancer as one of the most common cancers worldwide has various genetic and environmental risk factors including Helicobacter pylori (H.pylori) infection. Recently, loss of a tumor suppressor gene named promyelocytic leukemia (PML) has been ... ...

    Abstract Gastric cancer as one of the most common cancers worldwide has various genetic and environmental risk factors including Helicobacter pylori (H.pylori) infection. Recently, loss of a tumor suppressor gene named promyelocytic leukemia (PML) has been identified in gastric cancer. However, no mutation has been found in this gene in gastric cancer samples. Cag A H.pylori protein has been shown to exert post transcriptional regulation of some tumor suppressor genes. In order to assess such a mechanism for PML degradation, we performed in silico analyses to establish any interaction between PML and Cag A proteins. In silico interaction and docking studies showed that these two proteins may have stable interactions. In addition, we showed that imatinib kinase inhibitor can restore PML function by inhibition of casein kinase 2.
    MeSH term(s) Antigens, Bacterial/genetics ; Antigens, Bacterial/metabolism ; Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; Casein Kinase II/antagonists & inhibitors ; Gastric Mucosa/drug effects ; Gastric Mucosa/metabolism ; Gastric Mucosa/virology ; Helicobacter Infections/drug therapy ; Helicobacter Infections/genetics ; Helicobacter Infections/metabolism ; Helicobacter pylori/genetics ; Humans ; Imatinib Mesylate/pharmacology ; Molecular Docking Simulation/methods ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Promyelocytic Leukemia Protein ; Protein Interaction Domains and Motifs/drug effects ; Protein Interaction Domains and Motifs/genetics ; Protein Kinase Inhibitors/pharmacology ; RNA Processing, Post-Transcriptional/drug effects ; RNA Processing, Post-Transcriptional/genetics ; Stomach Neoplasms/drug therapy ; Stomach Neoplasms/metabolism ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Tumor Suppressor Proteins/genetics ; Tumor Suppressor Proteins/metabolism
    Chemical Substances Antigens, Bacterial ; Bacterial Proteins ; Nuclear Proteins ; Promyelocytic Leukemia Protein ; Protein Kinase Inhibitors ; Transcription Factors ; Tumor Suppressor Proteins ; cagA protein, Helicobacter pylori ; PML protein, human (143220-95-5) ; Imatinib Mesylate (8A1O1M485B) ; Casein Kinase II (EC 2.7.11.1)
    Language English
    Publishing date 2015-07-08
    Publishing country Thailand
    Document type Journal Article
    ZDB-ID 2218955-5
    ISSN 2476-762X ; 1513-7368
    ISSN (online) 2476-762X
    ISSN 1513-7368
    DOI 10.7314/apjcp.2015.16.12.5005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Plasma Levels of MicroRNA-146a-5p, MicroRNA-24-3p, and MicroRNA-125a-5p as Potential Diagnostic Biomarkers for Rheumatoid Arthris

    Fatemeh Safari / Elia Damavandi / Abdol-Rahman Rostamian / Shafieh Movassaghi / Zeinab Imani-Saber / Mojtaba Saffari / Majid Kabuli / Mohsen Ghadami

    Iranian Journal of Allergy, Asthma and Immunology, Vol 20, Iss

    2021  Volume 3

    Abstract: Rheumatoid arthritis (RA) is an autoimmune disease that is characterized by inflammation of the articular tissue. This study aims to evaluate the expression of microRNA (miR)-146a-5p, miR-24-3p, and miR-125a-5p in the plasma of RA patients and compare ... ...

    Abstract Rheumatoid arthritis (RA) is an autoimmune disease that is characterized by inflammation of the articular tissue. This study aims to evaluate the expression of microRNA (miR)-146a-5p, miR-24-3p, and miR-125a-5p in the plasma of RA patients and compare them with those of healthy controls to obtain a specific expression profile for earlier diagnosis and assistance in treating patients. This study was performed on 50 RA patients and 50 healthy controls. Five microliters of blood were taken from each patient/control. Plasma RNA was extracted using the Trisol solution. cDNAs were synthesized; using moloney murine leukemia virus (MMLV) and deoxynucleoside triphosphate (dNTP). Real-time PCR was performed using SYBR green kit. The mean expression of miR-146a-5p, miR-24-3p, and miR-125a-5p in the RA group were 8.1±1.9, 6.5±1.2, and 6.8±2.2 and in the healthy group were 4.8±1.6, 3.6±2.2, and 3.4±1.7, respectively. Significant differences were also observed in the mean expression of these three miRNAs in four subgroups of RA patients with different disease activity based on disease activity score 28 (DAS28) (p<0.05). ROC curve analysis showed that miR-146a-5p (AUC=0.8, sensitivity= 96%, specificity=86%), miR-24-3p (AUC=0.7, Sensitivity=95%, Specificity=75%) and miR-125a-5p (AUC=0.71, sensitivity=93%, specificity=84%) could be used as suitable biomarkers for RA diagnosis. Increased expressions of miR-146a-5p, miR-24-3p, and miR-125a-5p in RA patients indicate that the miRNAs are involved in disease incidence and progression, and the measurement of their expression can play an essential role in the diagnosis and treatment of the disease.
    Keywords MiR-146a ; MiR-24-3p ; Rheumatoid arthritis ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher Tehran University of Medical Sciences
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: Promyelocytic leukemia gene functions and roles in tumorigenesis.

    Imani-Saber, Zeinab / Ghafouri-Fard, Soudeh

    Asian Pacific journal of cancer prevention : APJCP

    2014  Volume 15, Issue 19, Page(s) 8021–8028

    Abstract: The promyelocytic leukemia (PML) gene is a gene known to be a tumor suppressor, although recent data suggest that it has a dual function in tumorigenesis. It was initially discovered in acute promyelocytic leukemia (APL) in which a t(15; 17) chromosomal ... ...

    Abstract The promyelocytic leukemia (PML) gene is a gene known to be a tumor suppressor, although recent data suggest that it has a dual function in tumorigenesis. It was initially discovered in acute promyelocytic leukemia (APL) in which a t(15; 17) chromosomal translocation fused it to the retinoic acid receptor alpha (RARα). It has been shown to be involved in various types of cancer. It has at least 6 nuclear isoforms and a cytoplasmic type with different characteristics. Its multiple functions in growth inhibition, apoptosis induction, replicative senescence, inhibition of oncogenic transformation, and suppression of migration and angiogenesis have made it a therapeutic target for cancer therapy. However, its dual role in the process of tumorigenesis has made this field challenging. In this review, we discuss PML structure, functions and expression in tumors.
    MeSH term(s) Animals ; Antineoplastic Agents/therapeutic use ; Cell Transformation, Neoplastic/drug effects ; Humans ; Molecular Targeted Therapy ; Neoplasms/drug therapy ; Neoplasms/pathology ; Nuclear Proteins/antagonists & inhibitors ; Nuclear Proteins/metabolism ; Promyelocytic Leukemia Protein ; Transcription Factors/antagonists & inhibitors ; Transcription Factors/metabolism ; Tumor Suppressor Proteins/antagonists & inhibitors ; Tumor Suppressor Proteins/metabolism
    Chemical Substances Antineoplastic Agents ; Nuclear Proteins ; Promyelocytic Leukemia Protein ; Transcription Factors ; Tumor Suppressor Proteins ; PML protein, human (143220-95-5)
    Language English
    Publishing date 2014
    Publishing country Thailand
    Document type Journal Article ; Review
    ISSN 2476-762X
    ISSN (online) 2476-762X
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Promyelocytic Leukemia (PML) Gene Mutations may not Contribute to Gastric Adenocarcinoma Development.

    Imani-Saber, Zeinab / Yousefi-Razin, Ehsan / Javaheri, Mona / Mirfakhraie, Reza / Motalleb, Gholamreza / Ghafouri-Fard, Soudeh

    Asian Pacific journal of cancer prevention : APJCP

    2015  Volume 16, Issue 8, Page(s) 3523–3525

    Abstract: Gastric cancer is the second most common cause of cancer death worldwide. Environmental as well as genetic factors have been shown to be involved in its genesis. Among genetic factors, loss of function of a tumor suppressive gene named promyelocytic ... ...

    Abstract Gastric cancer is the second most common cause of cancer death worldwide. Environmental as well as genetic factors have been shown to be involved in its genesis. Among genetic factors, loss of function of a tumor suppressive gene named promyelocytic leukemia (PML) has been demonstrated in gastric cancer. In order to cast light in the mechanism by which PML protein is under-expressed in gastric cancer cells, we analyzed all exons and intron-exon boundaries of PML gene in 50 formalin-fixed paraffin-embedded tissue blocks from gastric carcinoma tumors by means of PCR-SSCP and CSGE, with direct sequencing of abnormally shifted bands. We found a novel sequence variant of unknown significance localized in intron 5 in 3 samples (c.1398+84delA). We did not detect any deleterious mutations of the PML gene. This study shows that PML mutations may not contribute to gastric adenocarcinoma development. Post-translational modifications or protein degradation might be mechanisms by which PML is not expressed in gastric tumors.
    MeSH term(s) Adenocarcinoma/genetics ; Adult ; Aged ; Aged, 80 and over ; Electrophoresis ; Exons ; Female ; Genetic Predisposition to Disease ; Humans ; Introns ; Male ; Middle Aged ; Mutation ; Nuclear Proteins/genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Promyelocytic Leukemia Protein ; Protein Processing, Post-Translational ; Proteolysis ; Sequence Analysis, DNA ; Stomach Neoplasms/genetics ; Transcription Factors/genetics ; Tumor Suppressor Proteins/genetics
    Chemical Substances Nuclear Proteins ; Promyelocytic Leukemia Protein ; Transcription Factors ; Tumor Suppressor Proteins ; PML protein, human (143220-95-5)
    Language English
    Publishing date 2015-04-20
    Publishing country Thailand
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2218955-5
    ISSN 2476-762X ; 1513-7368
    ISSN (online) 2476-762X
    ISSN 1513-7368
    DOI 10.7314/apjcp.2015.16.8.3523
    Database MEDical Literature Analysis and Retrieval System OnLINE

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