جستجوی مقالات مرتبط با کلیدواژه « ژن s » در نشریات گروه « پزشکی »

Macrophages are the primary cells that encounter this pathogen, and Mycobacterium tuberculosis (MT) has developed several strategies to survive within the macrophage cytoplasm. One of the primary cellular targets of Mycobacterium species are macrophages. These bacteria employ various strategies to survive and proliferate within phagosomes, including inhibiting phagosome acidification and preventing phagosome-lysosome fusion. On the other hand, the significance of macrophage polarization and plasticity in response to infectious agents is well-established, particularly in distinguishing between M1 and M2 macrophages. The DUSP14 gene regulates the Mitogen-Activated Protein Kinase (MAPK) pathway, while RAP2A is a member of the GTPase family. Considering the roles of the DUSP14 and RAP2A genes in innate immunity, the aim of this study is to investigate the expression of these genes in macrophages from healthy individuals infected with PB8, H37Rv, and MTBRils strains. This analysis seeks to provide a more comprehensive understanding of the mechanisms underlying innate immune function.

Peripheral blood mononuclear cells (PBMCs) were isolated from 40 cc of peripheral blood drawn from five healthy individuals with negative PPD test results, using Ficoll density gradient centrifugation. The extracted cells were counted using a cell counter and cultured in StemSpan medium supplemented with 2 ml of lipid cholesterol and 5 ml of Pen/Strep (10x) per 500 ml of culture medium. After nine days, the cells were infected with two MT strains: H37Rv, MTBRils, and PB8. Total RNA was extracted from the infected cells 8, 18, and 48 hours post-infection. cDNA synthesis was performed, and real-time PCR was conducted using Takara master mix to analyze RAP2A and DUSP14 gene expression. The relative fold changes in gene expression were calculated using the 2–∆∆Ct method, with statistical analyses performed using GraphPad Prism version 8 and SPSS version 20.

The results showed that 4 hours after infection with the H37Rv strain, the expression of the RAP2A gene was higher than in groups infected with the other two strains, although the differences were not statistically significant. Additionally, while DUSP14 expression was not significantly increased 4 hours after infection with any of the three strains, its expression was higher in cultures infected with the PB8 strain. After 48 hours of MT infection, RAP2A gene expression decreased in macrophages infected with the H37Rv and MTBRils strains compared to the control and PB8-infected cells. Similarly, DUSP14 gene expression was significantly decreased in cells infected with the H37Rv and MTBRils strains compared to PB8-infected cells and controls.

The observed decrease in RAP2A gene expression in macrophages infected with the H37Rv and MTBRils strains is associated with reduced GTPase activity, suggesting that these strains may disrupt phagosome function, potentially shifting responses towards M2 macrophage polarization. Further studies investigating the role of RAP2A and DUSP14 gene polymorphisms in MT survival are recommended.

Charcot-Marie-Tooth disease is a group of genetically heterogeneous inherited disorders characterized by progressive sensory-motor or motor neuropathy, which often leading to leg abnormalities. The purpose of this study is to identify possible genes and mutations involved in bone genetic disorders, as well as to find new mutations that cause this disease, which can be used as background information and help to develop panels designed to diagnose this disorder.

After collecting the peripheral blood of the patients and other participants in the study, the DNA material was purified by the salting out method and sequenced with the Illumina 100X device. The standard Sanger method was used to confirm the variant.

IIn this study, two families from Khuzestan province were investigated. In the patient of the first family, NM_002180: exon3: c.449+1G>T mutation was detected, which was homozygous in the patient and heterozygous in his parents. This variant has been reported before, but it is a scarce variant that is not routinely checked. The mutation NM_002180: exon5: c.548A>C was detected in the second family.

By conducting more studies on a large number of families, it is possible to understand the frequency and type of mutations of genes involved in Charcot-Marie-Tooth disease in Iran and then consider the design of a special panel for this disease, which is a great help in diagnosing and preventing the disease. It will prevent the occurrence of new cases in families and improve the health of society.

According to the available statistics in 2020, breast cancer was the most common cancer in women. The protein encoded by the MLH1 gene is part of the mismatch repair (MMR) system. In this study, the association of rs63749820 C>T polymorphism of MLH1 gene with susceptibility to breast cancer in northwest Iran was investigated.

This case-control study was conducted on 100 women with breast cancer and 100 healthy women with no history of cancer in 1st and 2nd degree relatives. Single nucleotide polymorphism was investigated by Tetra-ARMS PCR technique. The analysis of the resulting data was done using the online statistical program java stat and SPSS version 26 software.

The genotypic distribution of sick and healthy people was 23.91% and 28.57% respectively for CC genotype, 11.95% and 5.10% for TT genotype and 64.13% and 66.32% respectively for CT genotype. The frequency of C allele was 55.98% and 61.73% and the frequency of T allele was 44.04% and 38.27% in patients and control subjects, respectively.

The findings of this research showed that there is no significant relationship between the genotypic and allelic distribution of MLH1 gene rs63749820 polymorphism with increased risk of breast cancer risk. Also, the relationship between the clinical characteristics of people with breast cancer including age, tumor grade, lymph involvement, involved side, tumor size, tumor type with the genotypic distribution of this SNP was not significant.

Neuro degenerative diseases, such as schizophrenia and Parkinson, are the main disorders in the human brain. The changes in the expression of dopa decarboxylase (DDC) and dopamine beta hydroxylase (DBH) genes are main causes, which play an important role in the level of dopamine in the brain. In this study, the correlation between the expression levels of DDC and DBH and these diseases has been investigated.

In this research, the target people were divided into three groups including group A (healthy people), group B (people with schizophrenia) and group C (people with Parkinson). Each group includes 15 individuals. After RNA extraction and cDNA synthesis, the expression level of DDC and DBH genes expression was determined through Real-time PCR.

The DDC expression showed decreased value in group C 0.08(0.03, 0.25) compared to group A 12.81(3.92, 31.34), and the DBH had increased value in group C 3.18(1.39, 8.14) compared to group A 0.22(0.11, 0.42). On the contrary, the DDC expression in group B revealed increased value 7.06(3.34, 9.75) compared to group A 0.14(0.1,0.3) and the DBH expression in group B had decreased value 0.04(0.03,0.58) compared to group A 31.34(16.51,82.27).

Our results showed that DDC and DBH genes expression plays a role in the occurrence of the diseases. There was no significant relationship between the genes, so by monitoring the expression level of these two genes and finding drugs to regulate the expression of them, we can find a way to prevent and treat the diseases.

The purpose of this study is to examine the studies of candidate genes in auditory processing disorder and studies of the effect of auditory deprivation in the critical period on the expression of genes and protein molecules and to determine the type and location of damage and the nature of auditory processing disorder.

In this review article, the words "genes and auditory processing disorder" and "auditory deprivation and auditory processing disorder" had searched in "Google Scholar" and "Science Direct"," pubmed ,"web of science" databases in the years 2000 to 2023.

After searching in Google Scholar and Science Direct and pubmed and web of science databases, 16 related and new articles were found and investigated.

α2δ3 protein and kcna1 and pax6 genes are known as samples effective molecules in auditory processing disorder. Auditory deprivation in the critical period by changing the expression of GABA and glutamate receptor genes causes defects in hearing behaviors without affecting hearing thresholds. Identifying proteins and molecules effective in auditory processing disorder can be a way to diagnose auditory processing disorder.

Infertility is one of the medical problems in the world today. Clomiphene citrate drug is used to treat infertility. One of the side effects of this drug is the formation of tumor tissue in the ovary. Quercetin is a flavonoid found abundantly in nature. Quercetin is found in many fruits, vegetables, leaves, seeds, and grains. Quercetin has the potential to be used in the treatment of cancer. The most well-known and common tumor suppressor gene in humans is the p53 gene. The p53 gene was discovered in 1979 and recognized as a tumor suppressor gene in 1989. This gene was recognized as the guardian of the genome in 1992 due to its role in maintaining the stability of the genome. The p53 gene is the most commonly mutated in human cancers. The purpose of this study is to evaluate the protective effect of quercetin on normal ovary cell viability induced by clomiphene citrate drug and its correlation with p53 gene expression.

In this research, Normal ovarian cells of the CHO cell line were used. Concentrations of 10, 50, 100, 500, and 1000 mg/ml quercetin 50 μM clomiphene citrate drug and 0.29 μg/ml cisplatin were prepared and added to the cultured cells for 24 hours. In this study, Clomiphene Citrate and Cisplatin are both positive controls. Cell viability was evaluated by MTT assay. RNA was extracted and p53 gene expression was analyzed by Real-Time PCR. In this study, the primer used for the p53 gene was designed using NCBI and primer3 sites. In this study, the internal control gene is GAPDH.

Results showed that the concentrations of 50, 100, 500, and 1000 mg/ml of quercetin reduced the toxicity of clomiphene citrate drug and cisplatin (both positive controls). So the higher quercetin concentration leads to a higher number of living cells and at 1000 mg/ml quercetin the number of living cells reached 83%. The results of Real-time PCR showed that Quercetin significantly increased the expression of the p53 gene compared to the positive control group (clomiphene citrate) and negative control (P<0.05). In the concentrations of 500 (P=0.0020) and 1000 (P<0.0001) quercetin compared to clomiphene citrate, this expression increase was more significant. Also, in the concentrations of 500 (P<0.0001) and 1000 (P<0.0001) quercetin compared to the negative control, a substantial increase in p53 gene expression was observed.

The findings of this study showed that the use of quercetin inhibits the cytotoxicity of clomiphene citrate and increases the expression of the p53 gene, and its effectiveness is dose-dependent. However, Our study may partially explain the role of quercetin in the tumorigenesis process in the development of cancer in normal ovarian cells.

 Mutations in the KISS1R gene are among the most critical potential causes of infertility. This gene plays a role in the regulation of the hypothalamus-pituitary-gonadal (HPG) axis and is used in the regulation of reproductive cycles and maturation of humans. The present study aimed to investigate the relationship between the Gly56Ala genetic variation of the KISS1R gene and infertility in a population of women in northern Iran.

In this work, among the women referred to Al-Zahrai Hospital of Rasht (Gilan Province, Iran) 100 women (50 infertile and 50 healthy) with age range (35.1 ± 2.1) were examined as patient and control group, respectively. Blood samples were collected with a volume of 2 ml and poured into EDTA carrier tubes. The DNA was extracted from leukocytes using a GPP kit. Allele-specific polymerase chain reaction (AS-PCR) was used to determine the genotype of KISSIR gene polymorphism (rs397515615).

The findings indicated that there was no significant correlation in genotype distribution between patients and control subjects in the samples evaluated in Gilan Province, Iran (P=0.216).

The Gly56Ala polymorphism of the KISS1R gene is not related to an increase in the risk of female infertility in the population of Gilan Province, Iran. Moreover, this gene is not considered a risk factor for female infertility in northern Iran. The change in the sampling location or size makes it possible to obtain different results.

 According to the conducted studies, breast cancer is one of the most common malignant tumors, and its incidence rate is increasing yearly. One of the measures to reduce the mentalities from breast cancer is early diagnosis of biomarkers, such as Leptin polymorphisms (rs7799039 and rs2167270), and timely treatment. Leptin is an adipocytokine made by fat cells, playing a crucial role in cell proliferation, survival, migration, and immune response. The present study aimed to assess the association between polymorphisms in the Leptin gene and breast cancer risk in Arak, Iran.

Two SNPs of the Leptin gene (rs7799039 and rs2167270) were genotyped by PCR-RFLP method (polymerase chain reaction-restriction fragment length polymorphism) in a case-control study, including 80 breast cancer patients and 80 healthy controls. In this study, all statistical analyses were performed in SPSS software (version 26) using the Chi-Squared test at P˂ 0.05 significant level.

Based on the results, rs7799039 and rs2167270 showed no significant association with breast cancer risk (P=0.183 and P=0.86,  respectively). In this study, the mean age in the patient group was 47 ( an age range of 28-79 years).

As evidenced by the obtained results, Leptin gene polymorphisms (rs7799039 and rs2167270) did not increase the risk of breast cancer in the Arak population in Iran. Although based on the present study results, there was no significant association between Leptin gene polymorphisms and breast cancer risk, according to the prominent role of the Leptin gene, the polymorphisms of this gene could be used as biomarkers to predict breast cancer in other populations.

Corynebacterium diphtheriae is an aerobic, gram-positive, non- sporulating bacterium. Diphtheria toxin (dt) is a highly toxic protein and produced as a result of bacterial infection with a special corynephage that carries tox. The aim of the present study was to clone the dt gene of Corynebacterium in susceptible E.coli XL1blue cell in order to produce a recombinant protein and use this protein in subsequent research in 2022 at Pasargård Research Institute.

In this Cross- sectional study, a DNA sample of Corynebacterium diphtheria vaccinal strain PW8 Sub- strain 2000CN was prepared from Razi Institute in Tehran. To identify the dt gene, the DNA bacterial strain was amplified using specific primers in the polymerase chain reaction (PCR) method. Using the TA- cloning kit, the dt gene was cloned in the susceptible E.coli XL1blue cell. The phylogeny tree for the bacterial strain was performed by DNA sequencing of the 16 srRNA gene region using clustalX and Mega5 software.

The DNA of Corynebacterium diphtheria carried the dt gene. TA- cloning of the dt gene was confirmed by the Real- Time PCR method, DNA sequencing of the PCR product, the presence of white- blue colonies, and amplification with an M13 primer. The result of DNA sequencing of the 16 srRNA gene region was confirmed as Corynebacterium diphtheria.

In this study, the dt gene was cloned in the E.coli XL1blue vector and then confirmed, and it can be considered as a powerful antigen for the preparation of the recombinant protein tool, as well as for stimulating the immune system. This gene can be used in future studies.

Despite recent advances in diagnosis and treatment, breast cancer is still the first cause of death for women worldwide. Today, zein is used as a widely used component in drug delivery systems due to its excellent hydrophobicity, biodegradability, biological adhesion and economic characteristics. This study was conducted with the aim of investigating the effect of zein- beta- cyclodextrin nanoparticles loaded with naringin on the expression of Cas9 and Bcl2 genes in MCF7 cell line.

In this experimental study, the size, surface morphology, and chemical structure of the synthesized β-CD-zein nanoparticles were determined by dynamic light scattering (DLS), scanning electron microscopy, and Fourier transform infrared spectroscopy (FT-IR), respectively. MCF7 cells were treated with different concentrations of zein-beta- cyclodextrin nanoparticles loaded with naringin (15.6, 31.2, 62.5, 125, 250 and 500 μg/ ml) for 24 hours and then the toxicity effect was evaluated using the MTT test. DAPI staining was performed to investigate the induction of apoptosis, and a flow cytometry assay was performed to evaluate the effects of β-CD- zein on cell viability, migration, and expression of genes related to migration and apoptosis. Finally, the expression of the Cas9 and Bcl2 genes compared to the GAPDH gene was checked by the real-time method. The results of these surveys were analyzed with SPSS software and Tukey's post hoc test.

The results showed that the nanoparticle was synthesized with a size of 144 nm, zeta potential of -16.2 mV, uniform shape and expected structure. The dispersion index of PDI was calculated as 0.17. Also, with increasing the concentration of nanoparticles loaded with naringin, the survival rate of cells decreased significantly compared to the control. Moreover, Real-time PCR showed that  the expression of Cas9 and Bcl2 gene in 24 hours under the influence of different concentrations of zein- beta- cyclodextrin nanoparticles loaded with naringin (IC50 with a concentration of 62.5 μg/ ml) significantly increased and decreased, respectively (P < 0.01.) compared to the control group.

Based on the findings of this research, the combination of zein- beta cyclodextrin loaded with naringin is effective against breast cancer cells and can be studied as a suitable candidate for breast cancer treatment.

Peptic ulcer is a painful inflammatory disease occurring inside the gastric or the first part of the small intestine (duodenum). One of the leading causes of this disease is Helicobacter pylori infection. Toll-like receptors (TLRs) play a crucial role as a warning factor in the detection of Helicobacter pylori infection in the immune system. TLRs belong to a group of pattern recognition receptors of the host's innate immune system. The present study aimed to assess the relationship between the C1174T polymorphism of the TLR5 gene and Helicobacter pylori infection in patients with peptic ulcers in Mazandaran province.

This case-control study investigated 150 patients with peptic ulcer and Helicobacter pylori infection and 150 healthy individuals. After extracting genomic DNA from gastric biopsy samples, genotypic and allelic frequency in patients and control group was determined by Three primer ARMS PCR method. Data were analyzed in SPSS software (version 23).

The frequency rates of CC, CT, and TT genotypes in patients were 19.3%, 49.3%, and 31.3%, respectively. In healthy people, these values were obtained at 38.6%, 45.3%, and 16%, respectively. Statistical analysis demonstrated a significant relationship between the C1174T polymorphism of the TLR5 gene and peptic ulcer disease.

As evidenced by the results of this study, the presence of the T allele at the C1174T position can be considered a factor for increasing the risk of peptic ulcer disease; nonetheless, the investigation of other TLR5 gene polymorphisms in larger populations is needed.

Mutant strains resistant to nucleoside/nucleotide analogs of hepatitis B virus (HBV) emerge due to the prolonged usage and single nucleotide polymorphism (SNP) incidence and escape mutations. The current study aimed to detect the selective pressures and the immune-associated escape mutation in HBsAg (S) gene in chronically HBV-infected patients.

In this cross-sectional study in 2013, fifty patients with chronic hepatitis B in Karaj were divided into treated and untreated groups. The number of virus DNA copies was quantified by real-time PCR and S gene was sequenced. The effect of each SNP on S protein stability was predicted with 1-mutant and DDG free energy estimation.

The lowest and the highest viral load in the serum samples were estimated 1.1 × 101/ml and 4.3 × 108/ml copies, respectively. The highest number of mutations leading to amino acid substitution includes Q101R, T115N, S143L, and Q129P was determined in one person who used drug was identified. In one patient without treatment, the M133T and L175S mutations were observed. The Q129P, S174N, and Y134C were also seen in others with a history of treatment. Of the 8 amino acid changes, L175S with DDG equal to 1.87 Kcal/mol had the greatest reduction effect on S protein stability.

According to these data, there is a relationship between the SNP of the virus S gene and the emergence of escape mutations. Findings of studies of escape mutations in human populations can influence the improvement of treatment and immunization against chronic hepatitis B infection.

Numerous reports indicate the spread of multiple drug resistances through different types of Extended Spectrum Beta Lactamase (ESBL), including enzymes resulting from SHV gene expression in different parts of the world, which is one of the major medical and therapeutic problems. Nowadays, investigating the role of Escherichia coli bacteria in various infections, including hospital infections, and the amount of use of different antibiotics in treatment, considering the increasing resistance of bacteria causing infection to antibiotics, is a necessity. The purpose of this research project was to investigate the prevalence of the SHV gene as one of the genes encoding ESBL in infectious bacteria including E. coli strains.

Sampling and isolation of Escherichia coli collected from clients suspected of urinary tract infection using standard methods and antibiogram test using disc-diffusion method were performed on them. To identify strains producing broad-spectrum beta-lactamases (ESBLs), nitrocephene-resistant isolates rechecked with the combined disc method to definitively detect the production of broad-spectrum beta-lactamase enzymes (ESBLs) with the use of pairs of ceftazidime, cefotaxime, cefotaxime, and ceftazidime antibiotic discs with and without clavulanic acid purchased from British Mast Company were tested. By extracting DNA from them using specific primers designed, evaluated, and prepared for the SHV gene, and performing PCR, the presence or absence of the SHV gene in the above strains was evaluated.

E. coli strains were isolated from 151 urinary samples (37.75)%. Isolates resistant to nitrocephene were considered as possible strains producing extended-spectrum beta-lactamases (ESBLs), the result of the confirmatory phenotypic test on probable positive (+) ESBL strains, in 33 cases (67.47) % of them were positive. By performing PCR using a pair of specific primers designed and prepared to detect and identify the SHV gene, the result of this test was also positive in 9 cases (72.72) % of them.

Using molecular methods along with phenotypic methods to accurately diagnose infectious agents, even their VBNC (viable but non-culturable) forms, and resistance genes can make the effectiveness of "molecular epidemiology" methods in tracking and increasing the fight against infections, including hospital infections.

Brain tumors are considered to be one of the most dangerous types of cancer, despite decades of research and treatment efforts. The activation of the telomerase enzyme is a critical factor in the immortality of these cells. Mutations in the promoter region of the TERT gene, particularly in the promoter hot spots, can influence the binding of activating transcription factors and inhibit the binding of negative regulatory factors of the TERT gene, ultimately regulating the gene's expression. This study aimed to identify and investigate the mutations of the TERT gene promoter region in glioblastoma, a malignant brain tumor, using bioinformatics.

A study was conducted using the case-control method where 35 patients with glioblastoma multiform brain tumor were examined along with 40 people who were examined as control samples. In this research, the Touchdown PCR technique and direct DNA sequencing were used to detect mutations in the promoter region of the TERT gene in patients with glioblastoma. Furthermore, bioinformatic analyses were conducted to investigate the pathogenic effect of nucleotide changes in this gene region.

In the core region of the TERT gene promoter, three-point mutations were identified (c.*146C>T، c.*144C>G and c.*143G>C). Two of these mutations were novel and have been observed for the first time in glioblastoma multiform. The remaining mutation was located in the promoter core's hot spot of the gene. This mutation was known as c.*146C>T.

In this research, the harmful impact of TERT promoter region mutations as a biomarker for glioblastoma was examined. These findings suggest that mutations in regulatory regions, as well as coding sequences, could be significant contributory factors in the process of carcinogenesis.

Gene therapy is used in various diseases such as cancer. Breast cancer is the most common malignancy in women worldwide, which shows the necessity of using innovative approaches in treatment methods. The ability of artificial intelligence algorithms to process large data, complex patterns, and classify them can be used to improve the process of gene therapy in breast cancer. The aim of this article is to review the available information and emphasize the applications of artificial intelligence in targeted gene therapy for breast cancer.

To carry out this study we used the articles on PubMed databases by searching for related keywords to collect information.

By designing artificial intelligence algorithms and analyzing very complex molecular pathways in the human body and sampling the experiences of scientists and doctors in clinical studies and simulating biological processes related to the regulation of gene expression in the human body, the effectiveness of gene carriers, control of gene delivery parameters/medicine and modeling of cells minimized the rate of medical errors and with early diagnosis of the disease and predicting the effectiveness of the medicine, it provided patient-centered treatments of the effectiveness of new treatments such as gene therapy with the least complications at the highest level.

In recent decade, many efforts have been made to use all types of gene therapy for breast cancer patients with the least complications and the most effectiveness. Therefore, artificial intelligence is a powerful tool for optimizing early diagnosis and treatment for breast cancer. It’s combination with interdisciplinary sciences in improving the health of the society is a very interesting topic for scientists, but due to the limitations that exist for its use, such as ethical cases and high costs, it should be done with high precision and sufficient studies.

The TP53 gene on the short arm of chromosome 17p, which is known as a tumor suppressor gene, encodes the transcription factor p53, and this factor controls cell cycle progression. This study was done to assess the association of TP53 (rs12602273C>G) gene polymorphism with the risk and prognosis of breast cancer in women of northwest of Iran.

In this case-control study, the association of TP53 (rs12602273C>G) gene polymorphism with breast cancer risk was studied in a population, including 100 patients and 100 healthy individuals was investigated by Tetra ARMS-PCR technique. The analysis of the resulting data was done using SPSS version 16 software and JavaStat online statistics package.

In the case group, the frequency of CC, CG, and GG genotypes were 81.52, 16.3, 2.17 percent, respectively and they were 79.34, 17.39, and 3.26 percent for the control group. Similarly, C and G allele frequency in case group was 89.67 and 10.32 percent and those in the control group was 88.04 and 11.95 percent, respectively. Statistical analyzes showed no association between genotypic (P>0.05) and allelic (P>0.05) polymorphism (rs12602273C>G) of TP53 gene with breast cancer. Also, the results showed that the studied polymorphism was not associated with the clinical characteristics of breast cancer patients in the Northwest of Iran (P>0.05).

These research findings suggest that TP53 polymorphism of rs12602273C>G is not related to the risk of breast cancer. The association of the genotypic distribution of this SNP with the clinical characteristics of the patients was insignificant.

The miR-302/367 cluster plays a critical role in reprogramming of somatic cells into pluripotent stem cells and in maintaining pluripotency. Until now, several studies have been conducted on the mechanism of miR-302/367 cluster in reprogramming, while little research has been done specifically on the effect of this cluster on mTOR signaling pathway. The mTOR pathway not only controls various cellular processes, such as proliferation, differentiation and autophagy, but also plays a significant role in the reprogramming process. Therefore, the present study was designed to identify the effect of miR-302/367 cluster on the mTOR pathway in adipose tissue-derived stem cells (ADSCs).

In this experimental study, the third to fifth- passaged ADSCs were transfected with TDH101PA- GP vector expressing mir-302/367 cluster and the mock vector using a Neon Transfection Kit and Neon Transfection System. One week after transfection, the expression of some mTOR signaling molecules in the ADSCs was assessed by comparative Real- Time PCR. Relative gene expression between the miR-302/367 and mock groups (4 replicates) was calculated by REST 2009 software based on Pair Wise Reallocation Randomization Test. Also, the expression of some mTOR pathway proteins was assessed by western blot analysis.

The overexpression of miR-302/367 cluster significantly reduced the expression of AKT, MTOR, RAPTOR, and RICTOR genes; the expression of these genes in the miR-302/367 transfection group compared to the mock group decreased to 0.44, 0.51, 0.56 and 0.6, respectively (P< 0.05). The expression of genes in the mock group was assumed as one. Also, as revealed by western blot analysis, the expression of phosphorylated AKT and phosphorylated MTOR proteins decreased in the ADSCs transfected with miR- 302/367 cluster compared to the mock group.

Overexpression of the miR-302/367 cluster appears to inhibit the activity of the mTOR signaling pathway in ADSCs and affect the cell reprogramming through this mechanism.

Mitral valve prolapse is a cardiac condition affecting the valve between the heart's left chambers, with genetic factors playing a significant role. This study aimed to assess the relationship between ACE gene deletion/insertion polymorphism and mitral valve prolapse in Mazandaran Province, located in northern Iran.

This case-control study included 90 patients with mitral valve prolapse and 95 healthy individuals as the control group. Genomic DNA was extracted from blood leukocytes, and genotypes and allelic frequencies were determined using the GAP-PCR method.

The frequencies of II, ID, and DD genotypes of the ACE gene in patients were 22.22%, 42.22%, and 35.46%, respectively, while in the control group, they were 32.63%, 45.26%, and 22.1%, respectively. A statistically significant difference was observed in the frequency of the DD genotype in patients compared to the control group (P=0.048, CI=1.00-3.70, OR=1.92). The odds ratio indicated that the D allele increased the probability of mitral valve prolapse by 1.58 times more than the I allele (OR=1.58). Furthermore, the frequency of the DD genotype was significantly higher in patients with high blood pressure (33.9%) compared to those without high blood pressure (12.7%) (P=0.02).

The results suggest a potential association between the I/D polymorphism of the ACE gene and mitral valve prolapse. However, further studies involving larger populations are necessary to confirm these findings.

Hereditary tyrosinemia type III is an uncommon inherited disorder of tyrosine metabolism caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase (HPD). This metabolic condition is passed down in an autosomal recessive pattern. Due to the rarity of the disease, the clinical presentation can be quite varied and unclear, but the primary symptoms are usually associated with elevated levels of tyrosine and phenolic metabolites, such as seizures, ataxia, and mental retardation. We presented the clinical, biochemical, and molecular features of a patient with tyrosinemia type III and his subsequent progress. Whole-exome sequencing revealed a novel HPD (276710) mutation (c.G1079C) in a homozygous pattern. Despite adhering to the prescribed diet, subsequent increased tyrosine level, the patient maintained normal neuropsychiatric development during the follow-up, raising questions about the effectiveness of a low-tyrosine diet. As a result, high tyrosine concentration may not act directly in neuronal damage of tyrosinemia type III patients.