Iranian Biomedical Journal最新文献

{"title":"Preparation, Optimization, and Investigation of Naringenin-Loaded Microemulsion for Topical Application","authors":"Anayatollah Salimi,&nbsp;Sara Amirimoghadam,&nbsp;Farid Bagheri","doi":"10.52547/ibj.3722","DOIUrl":"https://doi.org/10.52547/ibj.3722","url":null,"abstract":"<p><strong>Background: </strong>Flavonoids are a large group of phenolic compounds possessing anti-inflammatory and antioxidant effects. NAR is a flavonoid with various pharmacological properties. Using pharmaceutical compounds on skin is one of the routes of administration to achieve local and systemic effects. The aim of this study was to develop a topical formulation of NAR by the preparation of a NAR ME, which was further tested its skin permeability in rats.</p><p><strong>Methods: </strong>Eight 0.5% NAR MEs were prepared by mixing appropriate amounts of surfactant (Tween 80 and Labrasol), cosurfactant (Capryol 90) and the oil phase (oleic acid-Transcutol P in a ratio of 1:10). The drug was dissolved in the oil phase. The physicochemical properties of MEs such as droplet size, viscosity, release, and skin permeability were assessed using Franz Cells diffusion.</p><p><strong>Results: </strong>Based on the results, the droplet size of MEs ranged between 5.07 and 35.15 nm, and their viscosity was 164-291 cps. Independent factors exhibited a strong relationship with both permeability and drop size. The permeability findings revealed that the diffusion coefficient of NAR by the ME carrier increased compared to the drug saturation solution.</p><p><strong>Conclusion: </strong>The most validated results were obtained for Jss and particle size. Optimal formulations containing MEs with Jss and particle sizes varying between minimum and maximum amounts are suitable for topical formulations of NAR.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 5","pages":"366-73"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763875/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10448313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined Effect of Neutron Radiation and Curcumin on Breast Cancer Cells Cytotoxicity in 3D Culture Medium","authors":"Sajedeh Zargan,&nbsp;Mehdi Salehi Barough,&nbsp;Jamil Zargan,&nbsp;Mohsen Shayesteh,&nbsp;Ashkan Haji Noor Mohammadi,&nbsp;Mohsen Mousavi,&nbsp;Hani Keshavarz Alikhani","doi":"10.52547/ibj.3756","DOIUrl":"https://doi.org/10.52547/ibj.3756","url":null,"abstract":"<p><strong>Introduction: </strong>Introduction: Chemotherapy, biotherapy, and radiotherapy play a limited but important role in treating breast cancer. For more efficient treatment, combination therapy could be an appropriate option. In this study, radiotherapy using neutron radiation emitted from a 241Am-Be neutron source, as well as biotherapy using curcumin (80 μM) was combined to investigate the efficiency of treatment towards MCF-7 breast cancer in a three dimensional (3D) culture medium.</p><p><strong>Methods: </strong>Methods: MTT, neutral red uptake assay, nitric oxide, glutathione assay, catalase, cytochrome c, comet assay, and caspase-3 were used to determine the effect of neutron radiation and also neutron and curcumin combination on the viability of cancer cells.</p><p><strong>Results: </strong>Results: The results of cytotoxicity test showed that neutron irradiation with or without curcumin at 5, 10, 15, and 20 h reduced the survival of tumor cells. Moreover, the rate of apoptosis due to the neutron effect at different irradiation times enhanced with the increasing time.</p><p><strong>Conclusion: </strong>Conclusion: Due to the significant anticancer effect of curcumin in 3D culture, using this molecule before or after neutron therapy is recommended.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 6","pages":"475-84"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10616300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Anticancer and Cytotoxic Effects of Genistein on PC3 Prostate Cell Line under Three-Dimensional Culture Medium","authors":"Seyedeh Masoumeh Khamesi,&nbsp;Mehdi Salehi Barough,&nbsp;Jamil Zargan,&nbsp;Mohsen Shayesteh,&nbsp;Nooshin Banaee,&nbsp;Ashkan Haji Noormohammadi,&nbsp;Hani Keshavarz Alikhani,&nbsp;Mohsen Mousavi","doi":"10.52547/ibj.3711","DOIUrl":"https://doi.org/10.52547/ibj.3711","url":null,"abstract":"<p><strong>Background: </strong>Prostate cancer is a major cause of disease and mortality among men. Genistein (GNT) is an isoflavone found naturally in legumes. Isoflavones, a subset of phytoestrogens, are structurally similar to mammalian estrogens. This study aimed to evaluate the anticancer and cytotoxic effects of GNT on PC3 cell line under three dimensional (3D) culture medium.</p><p><strong>Methods: </strong>The 3D culture was created by encapsulating the PC3 cells in alginate hydrogel. MTT assay, neutral red uptake, comet assay, and cytochrome C assay were used to study the anticancer and cytotoxic effects of GNT at 120, 240, and 480 μM concentrations. Also, nitric oxide (NO), catalase, and glutathione assay levels were determined to evaluate the effect of GNT on the cellular stress. The culture medium was used as the negative control.</p><p><strong>Results: </strong>GNT reduced the production of cellular NO and increased the production of catalase and glutathione, confirming the results of the NO test. Evaluation of the toxicity effect of GNT at the concentrations of 120, 240, and 480 μM using comet assay showed that this chemical agent induces apoptosis in PC3 cells in a dose-dependent manner. As the level of cytochrome C in PC3 cells treated with different concentrations of GNT was not significantly different from that of the control, GNT could induce apoptosis in PC3 cells through the non-mitochondrial pathway.</p><p><strong>Conclusion: </strong>The findings of this study disclose that the anticancer effect of GNT on PC3 cells under 3D culture conditions could increase the effectiveness of treatment. Also, the cell survival rate is dependent on GNT concentration.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 5","pages":"380-8"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10814198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Hyperthermostable Recombinant Protein Nanocage","authors":"Yaghoub Ahmadyousefi,&nbsp;Massoud Saidijam,&nbsp;Bagher Amirheidari,&nbsp;Fatehmeh Rahbarizadeh,&nbsp;Meysam Soleimani","doi":"10.52547/ibj.3839","DOIUrl":"https://doi.org/10.52547/ibj.3839","url":null,"abstract":"<p><strong>Background: </strong>Background: Ferritin has an important role in iron storage in the cells, and due to its nanocage structure and self-assembly properties, it has wide application prospects in nanobiotechnology.</p><p><strong>Methods: </strong>Methods: The maize (Zea mays) ferritin gene ZmFer1 was cloned and expressed in Escherichia coli BL21 (DE3) for the first time. Change in macromolecular structure of ZmFer1 ferritin due to heat treatment was investigated using native PAGE electrophoresis, dynamic light scattering (DLS), and transmission electron microscopy (TEM). Change in the secondary structures of the protein was evaluated using circular dichroism spectroscopy. Moreover, alteration in the conformation of the protein was evaluated using UV-absorption spectra and intrinsic fluorescence spectra. The melting temperature (Tm) of ZmFer1 was obtained using differential scanning calorimetry (DSC). Finally, the effect of heat on the function of ZmFer1 was assessed by iron loading ability.</p><p><strong>Results: </strong>Results: The purified ZmFer1 protein showed a homopolymer nanocage structure. The results of native PAGE electrophoresis, DLS, and TEM techniques showed that ZmFer1 protein nanocage is stable to heat treatment up to 90 °C, and some of the protein nanocages retain their macromolecular structures even at 100 °C in liquid aqueous solution. Based on the DSC results, ZmFer1 protein nanocage had a Tm of 81.9 °C. After treatment at 100 °C, stable ZmFer1 protein nanocages were able to store iron atoms.</p><p><strong>Conclusion: </strong>Conclusion: Recombinant ZmFer1 ferritin with a Tm > 80°C is a hyperthermostable protein nanocage. The results of this study are beneficial for the development of protein nanocages that are stable under extreme temperature conditions, as well as application of ZmFer1 in nanobiotechnology, biomaterials, and biomedical fields.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 6","pages":"426-39"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841219/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10608641","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Upregulation of MiRNA-149-5p Reduces the Infract Volume in Middle Cerebral Artery Occlusion Rats by Modulating Cation-Chloride Cotransporters Expressions","authors":"Hossein Mostafavi,&nbsp;Narges Amoli,&nbsp;Elham Ghasemloo,&nbsp;Meysam Forouzandeh,&nbsp;Masoumeh Hosseini,&nbsp;Mehdi Eskandari","doi":"10.52547/ibj.3759","DOIUrl":"https://doi.org/10.52547/ibj.3759","url":null,"abstract":"<p><strong>Background: </strong>Brain ischemia often leads to the chloride gradient alternations, which affects volume regulation and neuronal survival. Increase in NKCC1 expression and reduction in KCC2 level under ischemic condition results in inflammation and neuronal death. In this study, we investigated the effect of mimic miRNA and coenzyme Q10 (CoQ10) on the expression of cation-chloride cotransporters (CCCs) (NKCC1 and KCC2) after cerebral ischemia.</p><p><strong>Methods: </strong>In this study, cerebral ischemia was modeled using the middle cerebral artery occlusion method. Rats were randomly divided into six groups: sham, model, negative control, vehicle, and the first and second treatments. In the Sham group, ischemia was not induced, and no treatment was performed. In the Model group, ischemia induction was performed, and other groups, in addition to ischemia induction, received Scramble miRNA, Ethanol, mimic miRNA-149-5p and CoQ10, respectively. Each group was divided into three subgroups to assess the volume of the tissue damage and neurological deficits scores (NDS) in subgroup 1, brain water content in subgroup 2, level of miRNA-149-5p and CCC expressions in subgroup 3.</p><p><strong>Results: </strong>Our data suggested that the use of mimic miRNA and Q10 increased the level of miRNA-149 and KCC2 expression and decreased NDS, NKCC1 expression, brain water content, and infract volume.</p><p><strong>Conclusion: </strong>Findings of this study suggest that the mimic miRNA and Q10 may have neuroprotective effects through reducing infract volume and brain water content and modulating the expression of CCCs after brain ischemia.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 5","pages":"357-65"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763874/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9233973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality by Design in Downstream Process Development of Romiplostim","authors":"Saeedeh Pouri,&nbsp;Fatemeh Torkashvand,&nbsp;Hooman Aghamirza Moghim Aliabadi,&nbsp;Pezhman Fard-Esfahani,&nbsp;Majid Golkar,&nbsp;Behrouz Vaziri","doi":"10.52547/ibj.3790","DOIUrl":"https://doi.org/10.52547/ibj.3790","url":null,"abstract":"<p><strong>Background: </strong>Background: Downstream processing of therapeutic recombinant proteins expressed as the inclusion bodies (IBs) in E. coli is quite challenging. This study aimed to use the quality by design approach for developing the multi-step downstream process of a structurally complex therapeutic Fc-Peptide fusion protein, romiplostim.</p><p><strong>Methods: </strong>Methods: For development of a successful downstream process, risk analysis and experimental designs were used to characterize the most critical quality attributes (CQAs) and effects of process parameters on these quality attributes.</p><p><strong>Results: </strong>Results: The solubilization of IBs was optimized by design of experiment on three parameters with a focus on solubility yield, which resulted in >75% increase of the target protein solubilization. The pH of sample was identified as CQA in anion exchange chromatography that might have an impact on achieving >85% host cell proteins removal and >90% host cell DNA reduction. In the refolding step, process parameters were screened. Cystine/cysteine ratio, pH, and incubation time identified as CPPs were further optimized using Box-Behnken analysis, which >85% of the target protein was refolded. The design space for further purification step by HIC was mapped with a focus on high molecular weight impurities. After polishing by gel filtration, the final product's biological activity showed no statistically significant differences among the groups received romiplostim and Nplate®, as the reference product.</p><p><strong>Conclusions: </strong>Conclusion: This research presents a precise and exhaustive model for mapping the design space in order to describe and anticipate the link between the yield and quality of romiplostim and its downstream process parameters.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 6","pages":"414-25"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10583486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Osteogenic Differentiation Effect of BMP-9 with Phenamil and Simvastatin on Intact Human Amniotic Epithelial Stem Cells","authors":"Armin Ahmadi,&nbsp;Seyed Shayan Ebadi,&nbsp;Tahereh Tayebi,&nbsp;Seyed Alireza Ebadi,&nbsp;Mohammad Mahdi Sarzaeem,&nbsp;Hassan Niknejad","doi":"10.52547/ibj.3748","DOIUrl":"https://doi.org/10.52547/ibj.3748","url":null,"abstract":"<p><strong>Background: </strong>Background: Bone tissue engineering has shown to be a promising strategy for repairing bone defects without causing harmful side effects to the patient. Three main building blocks of tissue engineering, including seeding cells, scaffold, and signaling molecules, are required for adequate bone regeneration. The human amniotic membrane (hAM) is the innermost of the placental membranes. In addition to providing a source of stem cells and growth factors, hAM has several features that make it an appropriate scaffold containing stem cells for use in tissue engineering purposes. The present investigation aimed to assess the effect of bone morphogenetic protein-9 (BMP-9) combined with phenamil and simvastatin on osteogenic induction of hAM with its human amniotic membrane epithelial cells (hAECs).</p><p><strong>Method: </strong>Methods: Using six different osteogenic medium (OMs), we cultured hAM for 14 days. The basic OMs were chosen as the first group and other media were made by adding BMP-9, phenamil, simvastatin, BMP-9 alongside phenamil, and BMP-9 alongside simvastatin to the basic OMs. Finally, viability assay, tissue mineralization, calcium and phosphate content determination, and measurement of lactic acid dehydrogenase (LDH), and alkaline phosphatase (ALP) activity were performed.</p><p><strong>Results: </strong>Results: Among all study groups, groups containing simvastatin showed a significantly lower level of viability. Although all media could induce osteogenic features, the hAECs cultured in media containing BMP-9 and phenamil demonstrated a wider area of mineralization and a significantly higher level of calcium and phosphate content, LDH, and ALP activity.</p><p><strong>Conclusion: </strong>Conclusion: Our findings indicated that the use of phenamil together with BMP-9 could synergistically show in situ osteogenic induction in hAECs, which could be a new insight into translational medicine.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 6","pages":"463-74"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841223/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10608643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of Recombinant CP2 and CP23 Antigens of Cryptosporidium parvum for Serodiagnosis of Human Cryptosporidiosis","authors":"Gholamreza Barzegar,&nbsp;Ehsan Ahmadpour,&nbsp;Bahador Shahriari,&nbsp;Rahmat Solgi,&nbsp;Mohammad Hossein Motazedian","doi":"10.52547/ibj. 3801","DOIUrl":"https://doi.org/10.52547/ibj. 3801","url":null,"abstract":"<p><strong>Background: </strong>Cryptosporidium parvum is an important coccidian parasite infecting many mammals, including human. This parasite can manifest as chronic severe diarrhea in immunocompromised individuals, especially those with AIDS. The present study reports the recombinant production of recombinant (r)P2 and rP23 antigens of C. parvum as antigens for detecting human cryptosporidiosis using indirect ELISA tests.</p><p><strong>Methods: </strong>The coding sequences of rP2 and rP23 proteins were codon-optimized, commercially synthesized and sub-cloned in the pET28a expression vector. The expressed proteins were purified by Ni-NTA column chromatography and confirmed by Western blotting. The efficacy of rP2/rP23 proteins for serodiagnosis was evaluated by positive (n = 20) and negative (n = 20) human sera, confirmed by the Ziehl-Neelsen staining as the gold standard test.</p><p><strong>Results: </strong>In ELISA test, the sera from C. parvum-infected patients reacted strongly to rP2/rP23. The sensitivity and specificity related to the diagnostic potential of rP2/rP23 in the ELISA assay were 100%.</p><p><strong>Conclusion: </strong>Our results showed that combination of rP23 and rP2 antigens in ELISA significantly increases the performance of C. parvum serodiagnosis in human cryptosporidiosis.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 5","pages":"374-9"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763877/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10448538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Antitumorigenic Effect of Cannabidiol in Lung Cancer: What Do We Know So Far?–A Mini Review","authors":"Vasileio Issaris,&nbsp;Gerasimos Panagiotis Milas,&nbsp;Nicholas Zareifopoulos","doi":"10.52547/ibj.3732","DOIUrl":"https://doi.org/10.52547/ibj.3732","url":null,"abstract":"<p><p>Lung cancer remains a major factor contributing to morbidity and mortality worldwide. cannabidiol (CBD) and Δ9-tetrahydrocannabinol could serve as a specific treatment for lung cancer, owing to their essential role in lung cancer cell apoptosis. This review evaluated the antitumorigenic mechanisms of CBD in lung cancer cells. We searched the databases MEDLINE, clinicaltrials.gov, Cochrane Central Register of Controlled Trials, and Google Scholar using specific terms. Of 246 studies screened, nine were included and assessed using the ToxRTool. All the selected studies were conducted in vitro, and four of which also had an in vivo content. The most common cell line used in all the studies was A549; however, some studies contained other cell lines, including H460 and H358. Our findings suggested that CBD has direct antineoplastic effects on lung cancer cells through various mechanisms mediated by cannabinoid receptors or independent of these receptors. All studies were referred to an in vitro model; hence, further research in animals is required.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 6","pages":"406-13"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10658037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reporting Two Novel Mutations in Two Iranian Families with Cystic Fibrosis, Molecular and Bioinformatic Analysis","authors":"Amin Hosseini Nami,&nbsp;Mahboubeh Kabiri,&nbsp;Sirous Zeinali","doi":"10.52547/ibj. 3713","DOIUrl":"https://doi.org/10.52547/ibj. 3713","url":null,"abstract":"<p><strong>Background: </strong>Cystic fibrosis (CF) is the most common heredity disease among the Caucasian population. More than 350 known pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (NM_000492.4) cause CF. Herein, we report the outcome of our investigation in two unrelated Iranian families with CF patients.</p><p><strong>Methods: </strong>We conducted phenotypic examination, segregation, linkage analysis, and CFTR gene sequencing to define causative mutations.</p><p><strong>Results: </strong>We found two novel mutations in the present study. The first one was a deletion causing frameshift, c.299delT p.(Leu100Profs*7), and the second one was a missense mutation, c.1857G>T, at nucleotide binding domain 1 of the CFTR protein. Haplotype segregation data supported our new mutation findings.</p><p><strong>Conclusion: </strong>Findings of this study expand the spectrum of CFTR pathogenic variations and can improve prenatal diagnosis and genetic counseling for CF.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":"26 5","pages":"398-405"},"PeriodicalIF":0.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763878/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10792494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}