Biochemical Genetics最新文献

{"title":"LncRNA HAND2-AS1 Inhibited Colon Cancer Progression By Regulating miR-3118/ZG16 Axis","authors":"Ling Hu, Linfeng Xie, Shan Huang, Qiu Li","doi":"10.1007/s10528-024-10905-3","DOIUrl":"https://doi.org/10.1007/s10528-024-10905-3","url":null,"abstract":"<p>LncRNA HAND2-AS1 is a novel cancer regulator, but the role and mechanisms of HAND2-AS1 involved with colon cancer (CC) progression remains unknown. The purpose of this research was to figure out how HAND2-AS1 regulates the progression of CC. Using qRT-PCR, we studied expression levels of miR-3118, HAND2-AS1, and ZG16 in CC tissues and cells. Protein levels of apoptosis-related proteins (Bax and Bcl-2) and ZG16 were quantified by western blotting. In vitro function analysis referred to western blotting, wound healing assay and CCK-8. The binding association among miR-3118, HAND2-AS1, and ZG16 was investigated using luciferase reporter and RIP assays. The functional role of HAND2-AS1 was analyzed using xenograft tumor models in vivo<i>.</i> In tissues and cells of CC, HAND2-AS1 was downregulated. We observed that HAND2-AS1 overexpression declined CC cell proliferation and migration while facilitating apoptosis. We further verified that when HAND2-AS1 is overexpressed it reduced CC tumor development in vivo. In CC cells and tissues, miR-3118 competed with HAND2-AS1 and was elevated. Further it was noted that the HAND2-AS1 when overexpressed, lessened the survival of CC cells, however overexpression of miR-3118 restored these changes. ZG16 was shown to be a target of miR-3118, it was found that ZG16 was downregulated in CC tissue and cells. We observed, high expression of ZG16 partially restored the enhanced malignant phenotype caused by miR-3118 overexpression. HAND2-AS1 inhibited CC progression by upregulating ZG16 expression through sponging miR-3118. Hence, HAND2-AS1/miR-3118/ZG16 axis could be a possible new target for CC treatment.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"37 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142260477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of MnSOD, CAT, and GPx1 Gene Polymorphism with Risk of Diabetic Nephropathy in South Indian Patients: A Case–Control Study","authors":"Farhana Begum, Karpagavel Lakshmanan","doi":"10.1007/s10528-024-10910-6","DOIUrl":"https://doi.org/10.1007/s10528-024-10910-6","url":null,"abstract":"<p>Diabetic nephropathy (DN) is one of the common complications of type 2 diabetes mellitus (T2DM), and oxidative stress plays a key role in the pathogenesis of DN. Studies have demonstrated that antioxidants (MnSOD, CAT, and GPx1) may reduce the complications associated with T2DM. The purpose of the study is to correlate the role of antioxidant gene polymorphisms in the pathogenesis of DN among T2DM individuals in the South Indian population. It clarifies the importance of early manifestation and reliable genetic indicators modulating the oxidative stress mechanism in DN. The study participants were divided and grouped as Group 1: Control, Group 2: T2DM without DN, and Group 3: T2DM with DN (n = 100 in each group). The levels of plasma glucose, HbA1c, renal profile, SOD, CAT, GPx1, MDA, and TAS were assessed. MnSOD (rs4880), CAT (rs1049982), and GPx1 (rs1050450) polymorphisms were genotyped via Tetra-arms PCR. The genotypes of GPx1 depict a significant role in the progression of DN in T2DM patients (co-dominant [OR: 2.134; 95% CI (1.202–3.788), <i>p</i> &lt; 0.01], dominant [OR: 2.015; 95% CI (1.117–3.634), <i>p</i> = 0.02], and recessive model [OR: 2.215; 95% CI (1.235–3.972), <i>p</i> = 0.008]); whereas rs4880 and rs1049982 polymorphisms are not associated with DN progression. As a result, GPx1 (rs1050450) polymorphism could be a diagnostic risk factor for developing DN in T2DM patients. Moreover, the genotypes of rs4880 and rs1049982 polymorphism show significant difference in the antioxidant parameters compared to the genotypes of rs1050450. In contradiction to earlier studies, the current study demonstrates that the genotypes of rs1050450 (GPx1) can be considered as an influential component for higher susceptibility and risk of developing DN in T2DM patients among the South Indian population.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":"17 1","pages":""},"PeriodicalIF":2.4,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142219730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Serum Level of ACTH and Investigating the Expression of miR-26a, miR-34a, miR-155-5p, and miR-146a in the Peripheral Blood Cells of Multiple Sclerosis Patients.","authors":"Sareh Al-Dahimavi, Reza Safaralizadeh, Mohammad Khalaj-Kondori","doi":"10.1007/s10528-024-10909-z","DOIUrl":"https://doi.org/10.1007/s10528-024-10909-z","url":null,"abstract":"<p><p>Multiple sclerosis (MS) is an inflammatory and neurodegenerative disorder affecting white and gray matter. This study aimed to investigate the association between clinical outcomes in MS patients and the levels of certain molecules in their serum, including ACTH, IL-17, and specific miRNAs: miR-26a, miR-34a, miR-155-5p, and miR-146a. Fifty healthy people and 75 blood samples from MS patients were selected. MS patients had higher expression levels of IL-17, miR-26a, miR-34a, and miR-146a compared to healthy individuals (p < 0.0001). There was no significant difference in miR-155-5p expression between the two groups (p = 0.203). MS patients also had higher serum levels of ACTH compared to the normal population (p < 0.0001). In MS patients, there was a negative correlation between IL-17 and miR-155-5p expression levels (p = 0.048, r =  - 0.229). Similarly, a significant negative correlation was observed between ACTH and miR-155-5p in the control group (p = 0.044, r =  - 0.286). The study's analysis revealed no significant difference in the expression of miR-155-5p between MS patients and normal individuals; the study's examination revealed that the expression level of IL-17, miR-26a, miR-34a, and miR-146a was higher in MS patients than in normal individuals.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142118687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploration of Genetic Variation and Population Structure in Bergenia ciliata for its Conservation Implications.","authors":"Harish Chandra Singh, Vandana Tiwari, Baleshwar Meena, Avinash Tiwari, Tikam Singh Rana","doi":"10.1007/s10528-024-10908-0","DOIUrl":"https://doi.org/10.1007/s10528-024-10908-0","url":null,"abstract":"<p><p>Bergenia ciliata (Haw.) Sternb. is a perennial medicinal herb distributed in Indian Himalayan Region (IHR). A total of eight populations of B. ciliata were collected from diverse locales of IHR, and 17 EST-SSR markers were used in this study. The present study revealed moderate genetic diversity at the locus level with the mean number of alleles (Na = 7.823), mean number effective of alleles (Ne = 3.375), mean expected heterozygosity (He = 0.570), and mean Shannon's diversity index (I = 1.264). The MSR (He = 0.543, I = 1.067) and DRJ populations (He = 0.309, I = 0.519) revealed the highest and lowest genetic diversity at the population level, respectively. AMOVA analysis showed that 81.76% of genetic variation was within populations, 10.55% was among populations, and 7.69% was among the regions. In addition, a moderate to high level of differentiation was found among the populations (F_ST = 0.182), which could be indicative of low to moderate gene flow (Nm = 0.669) in the B. ciliata populations. UPGMA and PCoA analysis revealed that eight populations could be differentiated into two groups, while the structure analysis of the 96 individuals differentiated into three groups. The Mantel test showed a positive relationship between genetic and geographical distance. The findings of this study will provide the development of conservation and germplasm management strategies for this valuable medicinal species.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142118688","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unveiling EFNB2 as a Key Player in Sorafenib Resistance: Insights from Bioinformatics Analysis and Functional Validation in Hepatocellular Carcinoma.","authors":"Junli Pan, Quanxi Li, Junli Zhu","doi":"10.1007/s10528-024-10903-5","DOIUrl":"https://doi.org/10.1007/s10528-024-10903-5","url":null,"abstract":"<p><p>Sorafenib resistance has become a big hurdle for treating advanced HCC; thus, identifying novel targets to overcome sorafenib resistance is of great importance. Thanks to the massive progress in the sequencing and data analysis, high-throughput screening of novel targets in HCC development has been extensively used in recent years. In present study, we harnessed the public dataset and aimed to identify novel targets related to sorafenib resistance in HCC via bioinformatics analysis and in vitro validation. This study examined three GEO datasets (GSE140202, GSE143233, GSE182593) and identified 20 common DEGs. Functional enrichment analysis suggested these DEGs might play a role in regulating drug resistance pathways. PPI network analysis pinpointed 14 hub genes, with EFNB2 showing high connectivity to other genes. Subsequent in vitro experiments demonstrated that EFNB2 was up-regulated in sorafenib-resistant HCC cells. EFNB2 suppression sensitized HepG2 and Huh7 sorafenib-resistant cells. Furthermore, EFNB2 knockdown increased caspase-3/-7 activities and hindered EMT in sorafenib-resistant HCC cells. Conversely, EFNB2 overexpression promoted sorafenib resistance, decreased caspase-3/-7 activity, and enhanced EMT in HCC cells. Overall, this study identified 14 promising genes potentially linked to sorafenib resistance in HCC, with EFNB2 emerging as a potential contributor to this resistance mechanism.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic Potential of PLK1, KIF4A, CDCA5, UBE2C, CDT1, SKA3, AURKB, and PTTG1 Genes in Triple-Negative Breast Cancer: Correlating Their Expression with Sensitivity to GSK 461364 and IKK 16 Drugs.","authors":"Najmeh Bashari, Mohammadamin Naghizadeh, Mehrnaz Kalhor Chegini, Ensieh Sagheb Sadeghi, Atefeh Zamani, Mohammad Mahdevar","doi":"10.1007/s10528-024-10907-1","DOIUrl":"https://doi.org/10.1007/s10528-024-10907-1","url":null,"abstract":"<p><p>The treatment of triple-negative breast cancer (TNBC) has been associated with challenges due to the lack of expression of ER, PR, and HER2 receptors in tumor cells. This study aimed to identify genes with potential therapeutic targets in TNBC. Data from the cancer genome atlas regarding breast cancer (BC) were downloaded. After initial preprocessing, cancer samples were categorized into four groups: TNBC, HER2-positive, luminal A, and luminal B. Gene expression differences between these groups were calculated, focusing on genes that showed differential expression in TNBC. A protein-protein interaction network was conducted to identify hub genes among the candidate genes related to TNBC. The protein expression of candidate genes was assessed using immunohistochemistry data from the human protein atlas. Drug resistance and sensitivity associated with hub genes were identified using data from PharmacoDB. TNBC samples and the RT-qPCR method were used to confirm the results. Our findings revealed that eight genes, namely PLK1, KIF4A, CDCA5, UBE2C, CDT1, SKA3, AURKB, and PTTG1, had significant upregulation at the RNA level in TNBC subgroup compared to other subgroups and could be considered hub genes in TNBC. Compared to other subgroups, their expression level in TNBC samples had high sensitivity and specificity. RT-qPCR results also demonstrated a significant increase in levels of SKA3 and PTTG1 in the TNBC compared to healthy tissue and other subgroups. The protein expression of these genes was notably high in some BC samples. PharmacoDB data showed that some candidate genes were closely linked to drug sensitivity of GSK 461364 and IKK 16. The results of this study showed a significant increase in the expression level of PLK1, KIF4A, CDCA5, UBE2C, CDT1, SKA3, AURKB, and PTTG1 in TNBC compared to other BC subgroups. These genes show considerable promise as therapeutic targets for the TNBC subgroup.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of Organochlorine Pesticides Exposure on Histone Modification H3K9ac: Implications for Unexplained Recurrent Miscarriage.","authors":"Sanaz Faramarz, Gholamreza Asadikaram, Mojtaba Abbasi-Jorjandi, Moslem Abolhassani, Katayoun Alidousti, Parvin Mangolian Shahrbabaki, Hossein Pourghadamyari","doi":"10.1007/s10528-024-10904-4","DOIUrl":"https://doi.org/10.1007/s10528-024-10904-4","url":null,"abstract":"<p><p>Epigenetic alterations, changes in gene expression without DNA sequence modifications, are associated with various health disorders, including reproductive health issues. These alterations can be influenced by environmental factors such as pesticides. This study aimed to explore the relationship between exposure to Organochlorine Pesticides (OClPs) and the histone modification mark H3K9ac in the placenta and fetal tissue, in the context of unexplained recurrent miscarriage (URM). In the case-control study, serum samples from 73 women with URM and 30 healthy women were examined for the presence of OClPs, which include 2,4-DDT, 2,4-DDE, 4,4-DDT, 4,4-DDE, α-HCH, β-HCH, and γ-HCH, using gas chromatography. Western blot analysis was used to assess H3K9ac expression in placental and fetal tissues. In the URM group, significant increases were observed in the values of α-HCH, β-HCH, 2,4-DDE, and 4,4-DDE, as well as in the concentration of total OClPs (Ʃ3HCH, Ʃ2DDE, Ʃ2DDT, and Ʃ7OClP), compared to controls. While H3K9ac levels in fetal tissue showed no significant difference, a notable decrease was found in the placental tissue of the URM. In the placenta tissue of URM, logistic regression analysis also revealed a significant inverse correlation between the toxins α-HCH, 2,4-DDE, 4,4-DDE, 4,4-DDT, total OClPs, and reduced H3K9ac expression. Our findings suggest that OClPs exposure may contribute to URM by reducing H3K9ac expression in the placenta, potentially affecting placental growth and immune tolerance. This underscores the need for further investigation into the involved mechanisms and potential therapeutic interventions, and the importance of OClPs regulation for reproductive health protection.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142015913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: ADAM12 Silencing Mediated by FOXC2 Represses Meningioma Progression Through Inactivating the JAK1/STAT3/VEGFA Pathway.","authors":"Huaming Zhang, Bing Yang","doi":"10.1007/s10528-024-10906-2","DOIUrl":"https://doi.org/10.1007/s10528-024-10906-2","url":null,"abstract":"","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142015912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Downregulation of RNF128 Inhibits the Proliferation, Migration, Invasion and EMT of Colorectal Cancer Cells.","authors":"Meng Wang, Jian Ding, Aihong Zhao, Yixin Zhang, Yongkun Zhou, Zhaochun Tian","doi":"10.1007/s10528-024-10895-2","DOIUrl":"https://doi.org/10.1007/s10528-024-10895-2","url":null,"abstract":"<p><p>Colorectal cancer has the third highest incidence and second highest mortality rate among all cancer types. Exploring the molecular mechanisms driving malignant proliferation and metastasis of colorectal cancer will benefit the treatment and management of cancer patients. Recent studies have reported diametrically opposed roles of Ring finger protein 128 (RNF128) in different types of cancer. However, the role of RNF128 in colorectal cancer is still completely unknown, which this study attempts to analyze. The differential expression of RNF128 mRNA and protein in 30 pairs of colorectal cancer and corresponding peritumoral tissues was detected using RT-qPCR, western blot and immunohistochemical staining. siRNA specifically targeting RNF128 was transfected into colorectal cancer cell lines (SW1116 and SW480) cultured in vitro. Proliferation, growth, migration, invasion and epithelial-mesenchymal transition (EMT) of colorectal cancer cells were examined by CCK-8, clone formation, wound-healing, transwell, western blot and immunofluorescence assays. Both RNF128 mRNA and protein levels were significantly increased in colorectal cancer tissues compared to pericarcinoma tissues. Knockdown of RNF128 significantly inhibited the proliferation, growth, migration, invasion and EMT of SW480 and SW1116 cells. Targeting RNF128 may benefit the treatment and management of colorectal cancer.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141981392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Functional Genetic Variations in Uric Acid Transporters with the Risk of Idiopathic Male Infertility: A Genetic Association Study and Bioinformatic Analysis.","authors":"Mohammad Karimian, Maryam Shabani, Hossein Nikzad","doi":"10.1007/s10528-024-10902-6","DOIUrl":"https://doi.org/10.1007/s10528-024-10902-6","url":null,"abstract":"<p><p>Uric acid plays an important role in sustaining and improving sperm morphology, viability, and motility. It is known that SLC2A9 and ABCG2 protein are the main urate transporter and genetic variations in these genes could be associated with the levels of serum uric acid. This study aimed to investigate the association between single-nucleotide polymorphisms (SNPs) SLC2A9-rs16890979, SLC2A9-rs3733591, ABCG2-rs2231142, and ABCG2-rs2231137 with male infertility. Additionally, the correlation of these SNPs with the uric acid level in seminal plasma of infertile men was examined. Subsequently, an in silico analysis was performed. In a case-control study, 193 infertile and 154 healthy controls were recruited. After semen sample collection, the uric acid level of seminal plasma was measured by a commercial kit. After genomic DNA extraction from sperm samples, SNPs genotyping was performed by PCR-RFLP method. Lastly, the effects of SNPs on the SLC2A9 and ABCG2 gene function were evaluated by bioinformatics tools. The genetic association study revealed that there are significant associations between rs16890979, rs3733591, rs2231142, and rs2231137 genetic variations and increased risk of male infertility. Also, these variations were associated with oligozoospermia and teratozoospermia, and sometimes with asthenozoospermia. Also, we found that four studied SNPs could be associated with a decreased level of uric acid of seminal plasma in teratozoospermia and asthenozoospermia. Bioinformatic analysis revealed that the mentioned polymorphisms could affect molecular aspects of SLC2A9 and ABCG2 genes. In this preliminary study, the rs16890979, rs3733591, rs2231142, and rs2231137 genetic variations could be considered as genetic risk factors for male infertility by interfering with the uric acid level of seminal plasma.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141974791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}