Genetics research最新文献_第6页

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia. 马来西亚 13 名糖原贮积症 1a 患者的分子、生化和临床特征。

IF 1.4 4区生物学

Genetics research Pub Date : 2022-09-13 eCollection Date: 2022-01-01 DOI: 10.1155/2022/5870092

Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

{"title":"Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.","authors":"Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu","doi":"10.1155/2022/5870092","DOIUrl":"10.1155/2022/5870092","url":null,"abstract":"Background: Glycogen storage disease type 1a (GSD1a) is a rare autosomal recessive metabolic disorder characterized by hypoglycaemia, growth retardation, lactic acidosis, hepatomegaly, hyperlipidemia, and nephromegaly. GSD1a is caused by a mutation in the G6PC gene encoding glucose-6-phosphatase (G6Pase); an enzyme that catalyses the hydrolysis of glucose-6-phosphate (G6P) to phosphate and glucose.Objective: To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia.Methods: The information about 13 clinically classified GSD1a patients was retrospectively studied. The G6PC mutation analysis was performed by PCR-DNA sequencing.Results: Patients were presented with hepatomegaly (92%), hypoglycaemia (38%), poor weight gain (23%), and short stature (15%). Mutation analysis revealed nine heterozygous mutations; eight previously reported mutations (c.155 A > T, c.209 G > A, c.226 A > T, c.248 G > A, c.648 G > T, c.706 T > A, c.1022 T > A, c.262delG) and a novel mutation (c.325 T > C). The most common mutation found in Malaysian patients was c.648 G > T in ten patients (77%) of mostly Malay ethnicity, followed by c.248 G > A in 4 patients of Chinese ethnicity (30%). A novel missense mutation (c.325 T > C) was predicted to be disease-causing by various in silico software.Conclusions: The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2022 ","pages":"5870092"},"PeriodicalIF":1.4,"publicationDate":"2022-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9489408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10411571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association of the Interleukin-10-592C/A Polymorphism and Cervical Cancer Risk: A Meta-Analysis. 白细胞介素-10-592C/A 多态性与宫颈癌风险的关系：一项 Meta 分析。

IF 1.4 4区生物学

Genetics research Pub Date : 2022-07-12 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2319161

Brehima Diakite, Yaya Kassogue, Mamoudou Maiga, Guimogo Dolo, Oumar Kassogue, Jonah Musa, Imran Morhason-Bello, Ban Traore, Cheick Bougadari Traore, Bakarou Kamate, Aissata Coulibaly, Sekou Bah, Sellama Nadifi, Robert Murphy, Jane L Holl, Lifang Hou

{"title":"Association of the Interleukin-10-592C/A Polymorphism and Cervical Cancer Risk: A Meta-Analysis.","authors":"Brehima Diakite, Yaya Kassogue, Mamoudou Maiga, Guimogo Dolo, Oumar Kassogue, Jonah Musa, Imran Morhason-Bello, Ban Traore, Cheick Bougadari Traore, Bakarou Kamate, Aissata Coulibaly, Sekou Bah, Sellama Nadifi, Robert Murphy, Jane L Holl, Lifang Hou","doi":"10.1155/2022/2319161","DOIUrl":"10.1155/2022/2319161","url":null,"abstract":"A literature review showed some discrepancies regarding the association of -592C/A with the risk of cervical cancer. To allow more precise analysis of the data by increasing the number of cases studied and more acceptable generalization by considering results from different sources, the present meta-analysis was performed on available published studies that explored the relationship between SNP-592C/A of the IL-10 gene and the risk of cervical cancer. Eleven available studies, including 4187 cases and 3311 controls, were included in this study investigating the relationship between the -592C/A polymorphism of IL-10 and cervical cancer risk. Fixed-effects or random-effects models were performed with pooled odds ratios (ORs). Heterogeneity and bias tests were performed by the inconsistency test and funnel plot, respectively. The overall analysis showed an increased susceptibility to cervical cancer with the -592C/A polymorphism of the IL-10 gene for the recessive model (OR = 1.30, 95% CI = 1.14-1.49), dominant model (OR = 1.36, 95% CI = 1.09-1.70), and additive model (OR = 1.25, 95% CI = 1.09-1.44). Regarding ethnicity, a significant association of the -592C/A polymorphism of the IL-10 gene was linked to an elevated risk of cervical cancer for all genetic models (recessive, dominant, and additive) in the Asian populations and for the recessive and additive models in Caucasians with P < 0.05. The -592C/A polymorphism of the IL-10 gene may be considered a risk factor for cervical cancer.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2022 ","pages":"2319161"},"PeriodicalIF":1.4,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9277745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Breast Cancer Prognosis Prediction and Immune Pathway Molecular Analysis Based on Mitochondria-Related Genes 基于线粒体相关基因的乳腺癌预后预测及免疫途径分子分析

IF 1.5 4区生物学

Genetics research Pub Date : 2022-05-31 DOI: 10.1155/2022/2249909

Weixu Luo, Yuanshan Han, Xin Li, Zhuo Liu, P. Meng, Yuhong Wang

{"title":"Breast Cancer Prognosis Prediction and Immune Pathway Molecular Analysis Based on Mitochondria-Related Genes","authors":"Weixu Luo, Yuanshan Han, Xin Li, Zhuo Liu, P. Meng, Yuhong Wang","doi":"10.1155/2022/2249909","DOIUrl":"https://doi.org/10.1155/2022/2249909","url":null,"abstract":"Background Mitochondria play an important role in breast cancer (BRCA). We aimed to build a prognostic model based on mitochondria-related genes. Method Univariate Cox regression analysis, random forest, and the LASSO method were performed in sequence on pretreated TCGA BRCA datasets to screen out genes from a Gene Set Enrichment Analysis, Gene Ontology: biological process gene set to build a prognosis risk score model. Survival analyses and ROC curves were performed to verify the model by using the GSE103091 dataset. The BRCA datasets were equally divided into high- and low-risk score groups. Comparisons between clinical features and immune infiltration related to different risk scores and gene mutation analysis and drug sensitivity prediction were performed for different groups. Result Four genes, MRPL36, FEZ1, BMF, and AFG1L, were screened to construct our risk score model in which the higher the risk score, the poorer the prognosis. Univariate and multivariate analyses showed that the risk score was significantly associated with age, M stage, and N stage. The gene mutation probability in the high-risk score group was significantly higher than that in the low-risk score group. Patients with higher risk scores were more likely to die. Drug sensitivity prediction in different groups indicated that PF-562271 and AS601245 might be new inhibitors of BRCA. Conclusion We developed a new workable risk score model based on mitochondria-related genes for BRCA prognosis and identified new targets and drugs for BRCA research.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47525843","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}

引用次数: 2

Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics 内皮素转换酶和内皮素-1基因多态性与马来族原发性高血压的关系

IF 1.5 4区生物学

Genetics research Pub Date : 2022-05-16 DOI: 10.1155/2022/9129960

Elnaz Salim, V. Ramachandran, Neda Ansari, P. Ismail, M. H. Mohamed, N. Mohamad, Liyana Najwa Inche Mat

{"title":"Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics","authors":"Elnaz Salim, V. Ramachandran, Neda Ansari, P. Ismail, M. H. Mohamed, N. Mohamad, Liyana Najwa Inche Mat","doi":"10.1155/2022/9129960","DOIUrl":"https://doi.org/10.1155/2022/9129960","url":null,"abstract":"Objectives Endothelin-1 (ET-1), the most potent endogenous vasoconstrictor, generated by enzymatic cleavage catalyzed by an endothelin-converting enzyme (ECE), plays a significant role in the regulation of hypertension. Methods This study investigates the effect of endothelin-1 (Lys198Asn/rs5370) and ECE (rs212526 C/T) gene polymorphisms with essential hypertension (EH) among Malay ethnics. To determine the association of gene polymorphism, 177 hypertensives and controls (196) were genotyped using Taqman method. Results A significant difference was observed in ET-1 rs5370 and ECE rs212526 gene polymorphisms between EH and control subjects (P < 0.001). A significantly high body mass index (BMI), waist-to-hip ratio, fasting plasma glucose, hemoglobin A1c, systolic and diastolic blood pressure, and lipid profiles were observed among the EH patients when compared to controls (P < 0.05). Moreover, T allele (rs5370) carriers in males have a high risk for EH. There was no significant association between gender in ECE C/T polymorphisms (P > 0.05). Conclusion Based on our result, it is evident that the T allele of ET-1 rs5370 polymorphism and C allele of ECE rs212526 have a significant genetic risk factor in EH among Malay subjects, and BMI and age are associated with hypertension.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2022-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45182150","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}

引用次数: 2

The Bioinformatical Identification of Potential Biomarkers in Heart Failure Diagnosis and Treatment 心力衰竭诊断和治疗中潜在生物标志物的生物信息学鉴定

IF 1.5 4区生物学

Genetics research Pub Date : 2022-05-16 DOI: 10.1155/2022/8727566

Xiaodong Sheng, Xiaoqi Jin, Yanqi Liu, Tao Fan, Zongcheng Zhu, Jing Jin, Guanqun Zheng, Zhixian Chen, Min Lu, Zhiqiang Wang

{"title":"The Bioinformatical Identification of Potential Biomarkers in Heart Failure Diagnosis and Treatment","authors":"Xiaodong Sheng, Xiaoqi Jin, Yanqi Liu, Tao Fan, Zongcheng Zhu, Jing Jin, Guanqun Zheng, Zhixian Chen, Min Lu, Zhiqiang Wang","doi":"10.1155/2022/8727566","DOIUrl":"https://doi.org/10.1155/2022/8727566","url":null,"abstract":"Background Heart failure (HF) is defined as the inability of the heart's systolic and diastolic function to properly discharge blood flow from the veins to the heart. The goal of our research is to look into the possible mechanism that causes HF. Methods The GSE5406 database was used for screening the differentially expressed genes (DEGs). Gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG), and Protein-Protein Interaction (PPI) network were applied to analyze DEGs. Besides, cell counting Kit-8 (CCK-8) was conducted to observe the knockdown effect of hub genes on cell proliferation. Results Finally, 377 upregulated and 461 downregulated DEGs came out, enriched in the extracellular matrix organization and gap junction. According to GSEA results, Hoft cd4 positive alpha beta memory t cell bcg vaccine age 18–45 yo id 7 dy top 100 deg ex vivo up, Sobolev t cell pandemrix age 18–64 yo 7 dy dn, and so on were significantly related to gene set GSE5406. 7 hub genes, such as COL1A1, UBB, COL3A1, HSP90AA1, MYC, STAT3 and MAPK1, were selected from PPI networks. CCK-8 indicated silencing of STAT3 promoted the proliferation of H9C2 cells and silencing of UBB inhibited the proliferation of H9C2 cells. Conclusion Our analysis reveals that COL1A1, UBB, COL3A1, HSP90AA1, MYC, STAT3, and MAPK1 might promote the progression of HF and become the biomarkers for diagnosis and treatment of HF.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2022-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45351459","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}

引用次数: 2

Analysis of the lncRNA-Associated Competing Endogenous RNA (ceRNA) Network for Tendinopathy lncrna相关的内源性竞争RNA (ceRNA)网络在肌腱病变中的作用分析

IF 1.5 4区生物学

Genetics research Pub Date : 2022-05-12 DOI: 10.1155/2022/9792913

Bing-Zhe Huang, Yang Jing-Jing, Xiao-Ming Dong, Zhuan Zhong, Xiao-Ning Liu

{"title":"Analysis of the lncRNA-Associated Competing Endogenous RNA (ceRNA) Network for Tendinopathy","authors":"Bing-Zhe Huang, Yang Jing-Jing, Xiao-Ming Dong, Zhuan Zhong, Xiao-Ning Liu","doi":"10.1155/2022/9792913","DOIUrl":"https://doi.org/10.1155/2022/9792913","url":null,"abstract":"Background We aimed to construct the lncRNA-associated competing endogenous RNA (ceRNA) network and distinguish feature lncRNAs associated with tendinopathy. Methods We downloaded the gene profile of GSE26051 from the Gene Expression Omnibus (GEO), including 23 normal samples and 23 diseased tendons. Differentially expressed mRNAs (DEmRNAs) and differentially expressed lncRNAs (DElncRNAs) were identified, and functional and pathway enrichment analyses were performed. Protein-protein interaction (PPI) network was constructed and further analyzed by module mining. Moreover, a ceRNA regulatory network was constructed based on the identified lncRNA–mRNA coexpression relationship pairs and miRNA–mRNA regulation pairs. Results We identified 1117 DEmRNAs and 57 DElncRNAs from the GEO data. The downregulated DEmRNAs were particularly associated with muscle contraction and muscle filament, while the upregulated ones were linked to extracellular matrix organization and cell adhesion. From the PPI network, 11 modules were extracted. Genes in MCODE 2 (such as TPM4) were significantly involved in cardiomyopathy, and genes in MCODE 4 (such as COL4A3 and COL4A4) were involved in focal adhesion, ECM-receptor interaction, and PI3K-Akt signaling pathway. The ceRNA network contained 7 lncRNAs (MIR133A1HG, LINC01405, PRKCQ-AS1, C10orf71-AS1, MBNL1-AS1, HOTAIRM1, and DNM3OS), 63 mRNAs, and 41 miRNAs. Downregulated lncRNA MIR133A1HG could competitively bind with hsa-miR-659-3p and hsa-miR-218-1-3p to regulate the TPM3. Meanwhile, MIR133A1HG could competitively bind with hsa-miR-1179 to regulate the COL4A3. Downregulated C10orf71-AS1 could competitively bind with hsa-miR-130a-5p to regulate the COL4A4. Conclusions Seven important lncRNAs, particularly MIR133A1HG and C10orf71-AS1, were found associated with tendinopathy according to the lncRNA-associated ceRNA network.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2022-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42529271","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}

引用次数: 0

Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene 审查有害的非同义snp及其对人类POLD1基因的影响

IF 1.5 4区生物学

Genetics research Pub Date : 2022-05-11 DOI: 10.1155/2022/1740768

Md. Nazmul Islam Bappy, Anindita Roy, Md Gulam Rabbany Rabbi, Nusrat Jahan, Fahmida Akther Chowdhury, Syeda Farjana Hoque, E. Sajib, Parvez Khan, F. Hossain, K. Zinnah

{"title":"Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene","authors":"Md. Nazmul Islam Bappy, Anindita Roy, Md Gulam Rabbany Rabbi, Nusrat Jahan, Fahmida Akther Chowdhury, Syeda Farjana Hoque, E. Sajib, Parvez Khan, F. Hossain, K. Zinnah","doi":"10.1155/2022/1740768","DOIUrl":"https://doi.org/10.1155/2022/1740768","url":null,"abstract":"POLD1 (DNA polymerase delta 1, catalytic subunit) is a protein-coding gene that encodes the large catalytic subunit (POLD1/p125) of the DNA polymerase delta (Polδ) complex. The consequence of missense or nonsynonymous SNPs (nsSNPs), which occur in the coding region of a specific gene, is the replacement of single amino acid. It may also change the structure, stability, and/or functions of the protein. Mutation in the POLD1 gene is associated with autosomal dominant predisposition to colonic adenomatous polyps, colon cancer, endometrial cancer (EDMC), breast cancer, and brain tumors. These de novo mutations in the POLD1 gene also result in autosomal dominant MDPL syndrome (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy). In this study, genetic variations of POLD1 which may affect the structure and/or function were analyzed using different types of bioinformatics tools. A total of 17038 nsSNPs for POLD1 were collected from the NCBI database, among which 1317 were missense variants. Out of all missense nsSNPs, 28 were found to be deleterious functionally and structurally. Among these deleterious nsSNPs, 23 showed a conservation scale of >5, 2 were predicted to be associated with binding site formation, and one acted as a posttranslational modification site. All of them were involved in coil, extracellular structures, or helix formation, and some cause the change in size, charge, and hydrophobicity.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2022-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45815321","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}

引用次数: 2

Genome-Wide Identification and Functional Analysis of Lysine Histidine Transporter (LHT) Gene Families in Maize 玉米赖氨酸组氨酸转运蛋白(LHT)基因家族的全基因组鉴定和功能分析

IF 1.5 4区生物学

Genetics research Pub Date : 2022-04-26 DOI: 10.1155/2022/2673748

Md Golam Rabby, M. Hossen, M. Kamal, Md Numan Islam

引用次数: 3

Genetic Analysis of Prunus salicina L. by Random Amplified Polymorphic DNA (RAPD) and Intersimple Sequence Repeat (ISSR) 用随机扩增多态性DNA（RAPD）和单核序列重复序列（ISSR）对李的遗传分析

IF 1.5 4区生物学

Genetics research Pub Date : 2022-04-18 DOI: 10.1155/2022/2409324

Jun Li, Guangchun Gao, Bin Li, Bai Li, Qihua Lu

{"title":"Genetic Analysis of Prunus salicina L. by Random Amplified Polymorphic DNA (RAPD) and Intersimple Sequence Repeat (ISSR)","authors":"Jun Li, Guangchun Gao, Bin Li, Bai Li, Qihua Lu","doi":"10.1155/2022/2409324","DOIUrl":"https://doi.org/10.1155/2022/2409324","url":null,"abstract":"Background Prunus salicina L. is an important fruit tree species of great economic value which is mainly distributed in the northern hemisphere. Methods 25 samples of Prunus salicina L. were collected from 8 provinces in China, Japan, USA, and New Zealand. The genetic variations of these samples were characterized by the random amplified polymorphic DNA (RAPD) and intersimple sequence repeat (ISSR) technique, respectively, and in combination. Results Totally, 257 RAPD bands ranging 200∼2300 bp was found, and 81.59% of these bands were polymorphic. ISSR analysis identified 179 bands ranging 300∼2500 bp, and 87.74% of the bands were polymorphic. ISSR results showed that the similarity coefficient index between samples P10 (Maihuangli in Anhui, Chin) and P13 (Longyuanqiuli in Heilongjiang, China) was lowest, while that between samples P10 (Maihuangli in Anhui, Chin) and P15 (Baili in Japan) was highest. Combined analysis of RAPD and ISSR demonstrated that the similarity coefficient index between samples P4 (Qiepili in Ningbo, Zhejiang, China) and P13 (Longyuanqiuli in Heilongjiang, China) was lowest, while that between samples P19 (Laroda in USA) and P20 (Red heart in USA) was highest. Conclusion RAPD combined with ISSR analysis can be used for genetic characterization of Prunus L. species.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2022-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47174230","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}

引用次数: 5

Sirt3 Regulates Response to Oxidative Stress by Interacting with BER Proteins in Colorectal Cancer Sirt3通过与BER蛋白相互作用调节结直肠癌对氧化应激的反应

IF 1.5 4区生物学

Genetics research Pub Date : 2022-04-07 DOI: 10.1155/2022/7299555

J. Kabziński, A. Walczak, I. Majsterek

{"title":"Sirt3 Regulates Response to Oxidative Stress by Interacting with BER Proteins in Colorectal Cancer","authors":"J. Kabziński, A. Walczak, I. Majsterek","doi":"10.1155/2022/7299555","DOIUrl":"https://doi.org/10.1155/2022/7299555","url":null,"abstract":"The oxidative damages are well-recognized factors in the pathogenesis of colorectal cancer (CRC). Increased levels of reactive oxygen species (ROS) can lead to oxidative DNA damage, which, if unrepaired, can be an underlying cause of cancerogenic transformation. To defend against these threats, cells have developed a range of defense mechanisms. One of the most important protection mechanisms is DNA repair systems, both nuclear and mitochondrial. Sirt3 is a mitochondrial protein involved in regulating NEIL1, NEIL2, MUTYH, APE1, and LIG3 proteins, which are involved in DNA repair, including mitochondrial repair through mtBER (mitochondrial Base Excision Repair). In this work, we show that NEIL1, NEIL2, MUTYH, APE1, and LIG3 are regulated by Sirt3 through deacetylation, and moreover, Sirt3 is directly involved in physical interaction with MUTYH, NEIL1, and APE1, which indicates the controlling role of Sirt3 over the mtBER mechanism. Also, if the cells deprived of Sirt3 are exposed to oxidative stress, altered levels of those proteins can be observed, which supports the theory of the regulatory role of Sirt3. Finally, to fully confirm the role of Sirt3 in DNA repair, we examined its role in apoptosis and found the impact of this protein on cell survival rate. Using the knowledge obtained in the course of conducted experiments, we postulate consideration of Sirt3 as a target in the rising vulnerability of cancer cells during therapy and therefore increasing the effectiveness of cancer treatment.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2022-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45935219","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}

引用次数: 2