Genetics and Molecular Biology最新文献_第6页

CCR5Δ32 and HLA allele diversity in bone marrow donors from southern Brazil. 巴西南部骨髓捐献者的 CCR5Δ32 和 HLA 等位基因多样性。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-29 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0198

Bruna Kulmann-Leal, Joel Henrique Ellwanger, Ana Cristina Arend, Luiz Fernando Job Jobim, Mariana Jobim, Rafael Tomoya Michita, Sidia Maria Callegari-Jacques, Luís Cristóvão de Moraes Sobrino Pôrto, José Artur Bogo Chies

{"title":"CCR5Δ32 and HLA allele diversity in bone marrow donors from southern Brazil.","authors":"Bruna Kulmann-Leal, Joel Henrique Ellwanger, Ana Cristina Arend, Luiz Fernando Job Jobim, Mariana Jobim, Rafael Tomoya Michita, Sidia Maria Callegari-Jacques, Luís Cristóvão de Moraes Sobrino Pôrto, José Artur Bogo Chies","doi":"10.1590/1678-4685-GMB-2023-0198","DOIUrl":"10.1590/1678-4685-GMB-2023-0198","url":null,"abstract":"Transplantation of stem cells derived from donors with CCR5Δ32 homozygous genotype is a potential strategy to achieve both the control of malignant hematological disease as well as sustained remission of the HIV infection, and researchers in different countries are looking for CCR5Δ32 homozygous donors to replicate such a 'double-target' strategy. We determined the frequency of the CCR5Δ32 variant in a sample of 1,398 bone marrow donors from Rio Grande do Sul State, Brazil. This study also evaluated whether HLA-A, HLA-B and HLA-DRB1 genotypes are homogeneously distributed between CCR5Δ32 carriers and non-carriers in a population characterized by a significant genetic admixture. The CCR5Δ32 allele frequency was 7.4% (CI0.95 6.4-8.4%), and the frequency of the Δ32/Δ32 homozygous genotype was 0.72% (CI0.95 0.34-1.31%). In general, HLA genotypes are homogeneously distributed between CCR5Δ32 carriers and non-carriers. Considering the large number of bone marrow donors in Brazil and the high CCR5Δ32 allele frequency observed in our study, our results clearly indicate the existence of a considerable amount of potential CCR5Δ32 homozygous bone marrow donors in southern Brazil, suggesting that an active search for these donors is not only feasible but an attractive and promising strategy towards effective HIV infection control and treatment.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 3","pages":"e20230198"},"PeriodicalIF":1.7,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11285832/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792371","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

The influence of amoeba metal homeostasis on antifungal activity against Cryptococcus gattii. 变形虫金属平衡对加特隐球菌抗真菌活性的影响

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-29 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0320

Maria Eduarda Deluca João, Andrea Gomes Tavanti, Alexandre Nascimento de Vargas, Livia Kmetzsch, Charley Christian Staats

{"title":"The influence of amoeba metal homeostasis on antifungal activity against Cryptococcus gattii.","authors":"Maria Eduarda Deluca João, Andrea Gomes Tavanti, Alexandre Nascimento de Vargas, Livia Kmetzsch, Charley Christian Staats","doi":"10.1590/1678-4685-GMB-2023-0320","DOIUrl":"10.1590/1678-4685-GMB-2023-0320","url":null,"abstract":"Free-living amoebas are natural predators of fungi, including human pathogens of the Cryptococcus genus. To survive and proliferate inside phagocytes, cryptococcal cells must acquire several nutrients. Zinc is fundamental for all life forms and develops a crucial role in the virulence of fungal pathogens, phagocytes reduce the availability of this metal to reduce the development of infection. The Acanthamoeba castellanii ACA1_271600 gene codes a metal transporter that is possibly associated with such antifungal strategy. Here, we evaluated the impact of A. castellanii metal homeostasis on C. gattii survival. Gene silencing of ACA1_271600 was performed and the interaction outcome of amoeba cells with both WT and zinc homeostasis-impaired mutant cryptococcal cells was evaluated. Decreased levels of ACA1_271600 in silenced amoeba cells led to higher proliferation of such cryptococcal strains. This effect was more pronounced in the zip1 mutant of C. gattii, suggesting that ACA1_271600 gene product modulates metal availability in Cryptococcus-infected amoebae. In addition, a systems biology analysis allowed us to infer that ACA1_271600 may also be involved in other biological processes that could compromise amoebae activity over cryptococcal cells. These results support the hypothesis that A. castellanii can apply nutritional immunity to hamper cryptococcal survival.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230320"},"PeriodicalIF":1.7,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11290705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141878633","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

miRNAs and NFKB1 and TRAF6 target genes: The initial functional study in CD14+ monocytes in rheumatoid arthritis patients. miRNA 与 NFKB1 和 TRAF6 靶基因：对类风湿性关节炎患者 CD14+ 单核细胞的初步功能研究。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-26 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0235

Isaura Isabelle Fonseca Gomes da Silva, Denise de Queiroga Nascimento, Alexandre Domingues Barbosa, Fabricio Oliveira Souto, Maria de Mascena Diniz Maia, Sergio Crovella, Paulo Roberto Eleuterio de Souza, Paula Sandrin-Garcia

{"title":"miRNAs and NFKB1 and TRAF6 target genes: The initial functional study in CD14+ monocytes in rheumatoid arthritis patients.","authors":"Isaura Isabelle Fonseca Gomes da Silva, Denise de Queiroga Nascimento, Alexandre Domingues Barbosa, Fabricio Oliveira Souto, Maria de Mascena Diniz Maia, Sergio Crovella, Paulo Roberto Eleuterio de Souza, Paula Sandrin-Garcia","doi":"10.1590/1678-4685-GMB-2023-0235","DOIUrl":"10.1590/1678-4685-GMB-2023-0235","url":null,"abstract":"We predicted miRNAs with regulatory impact on NFKB1 and TRAF6 gene expression and selected the miR-194-5p, miR-124-3p, miR-9-5p, and miR-340-5p and their target genes for expression analyses on CD14+ monocytes from rheumatoid arthritis (RA) patients and healthy controls. Additionally, we evaluated the influence of genes and miRNA expression on RA patients' cytokine levels. No difference was observed in genes or miRNAs expression when compared to healthy controls and RA patients or clinical parameters. However, we found a significant difference between miR-194-5p and miR-9-5p levels (FC=-2.31; p=0.031; FC=-3.05;p=0.031, respectively) and non-prednisone users as compared to prednisone using patients. We conducted correlation analyses to identify the strength of the relationship between expression data and cytokine plasma levels. We observed a moderate positive correlation between miR-124-3p expression and IL-6 plasma levels (r=0.46; p=0.033). In addition, overexpression of miRNAs was concomitant to TRAF6 and NFKB1 genes as indicated by correlation analyses: TRAF6 and miR-194-5p (r=0.60;p<0.001) and miR-9-5p (r=0.63;p<0.001) and NFKB1 and miR-194-5p (r=0.72;p<0.001), miR-9-5p (r=0.72;p<0.001) and miR-340-5p (r=0.61;p<0.001). NFKB1 and TRAF6 genes and miRNAs monocyte expression do not appear to be related to RA but showed a significant difference in different groups of RA therapy. In addition, increased levels of miRNAs can be linked to concomitant overexpression of TRAF6 and NFKB1 in monocytes and act as its regulators.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230235"},"PeriodicalIF":1.7,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11274900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141758165","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

Social information as an entrainment cue for the circadian clock. 社会信息是昼夜节律钟的诱导线索。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-22 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2024-0008

Chiara Costa Petrillo, Nicolás Pírez, Esteban J Beckwith

{"title":"Social information as an entrainment cue for the circadian clock.","authors":"Chiara Costa Petrillo, Nicolás Pírez, Esteban J Beckwith","doi":"10.1590/1678-4685-GMB-2024-0008","DOIUrl":"10.1590/1678-4685-GMB-2024-0008","url":null,"abstract":"Animals adapt to the daily changes in their environmental conditions by means of genetically encoded circadian clocks. These clocks, found throughout the tree of life, regulate diverse biological functions, and allow periodical changes in physiology and behaviour. The molecular underpinnings of these clocks have been extensively studied across taxa, revealing a brain-based system that coordinates rhythmic activities through neuronal networks and signalling pathways. Entrainment, the alignment of internal rhythms with external cues or zeitgebers, is crucial for the adaptive value of these internal clocks. While the solar light-dark cycle is a primary zeitgeber for most animals, other relevant cues such as temperature, meal timing, predators, anxiety, fear, physical activity, and social interactions also play roles in entraining circadian clocks. The search of a detailed description of the circadian clocks is a goal for neurobiology and an area of growing societal interests. Moreover, as disruptions in circadian rhythms are implicated in various diseases, understanding the entrainment pathways contributes to developing interventions for improved wellbeing and health outcomes. This review focuses on socially relevant cues, examining their impact on animal physiology and behaviour, and explores the sensory pathways transmitting information to the central clock.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20240008"},"PeriodicalIF":1.7,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11262420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733930","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

Implications of the microbiome and metabolic intermediaries produced by bacteria in breast cancer. 微生物组和细菌产生的代谢中间产物对乳腺癌的影响。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-22 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0316

Vívian D'Afonseca, Elizabeth Valdés Muñoz, Alan López Leal, Patricio Maximiliano Adrián Suazo Soto, Cristóbal Parra-Cid

{"title":"Implications of the microbiome and metabolic intermediaries produced by bacteria in breast cancer.","authors":"Vívian D'Afonseca, Elizabeth Valdés Muñoz, Alan López Leal, Patricio Maximiliano Adrián Suazo Soto, Cristóbal Parra-Cid","doi":"10.1590/1678-4685-GMB-2023-0316","DOIUrl":"10.1590/1678-4685-GMB-2023-0316","url":null,"abstract":"The breast microbiome presents a diverse microbial community that could affects health and disease states, in the context of breast cancer. Sequencing technologies have allowed describing the diversity and abundance of microbial communities among individuals. The complex tumoral microenvironment that includes the microbial composition could influence tumor growth. The imbalance of diversity and abundance inside the microbial community, known as dysbiosis plays a crucial role in this context. One the most prevalent bacterial genera described in breast invasive carcinoma are Bacillus, Pseudomonas, Brevibacillus, Mycobacterium, Thermoviga, Acinetobacter, Corynebacterium, Paenibacillus, Ensifer, and Bacteroides. Paenibacills genus shows a relation with patient survival. When the Paenibacills genus increases its abundance in patients with breast cancer, the survival probability decreases. Within this dysbiotic environment, various bacterial metabolites could play a pivotal role in the progression and modulation of breast cancer. Key bacterial metabolites, such as cadaverine, lipopolysaccharides (LPS), and trimethylamine N-oxide (TMAO), have been found to exhibit potential interactions within breast tissue microenvironments. Understanding the intricate relationships between dysbiosis and these metabolites in breast cancer may open new avenues for diagnostic biomarkers and therapeutic targets. Further research is essential to unravel the specific roles and mechanisms of these microbial metabolites in breast cancer progression.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20230316"},"PeriodicalIF":1.7,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11262001/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733929","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

Clinal variation in natural populations of Drosophila melanogaster: An old debate about natural selection and neutral processes. 黑腹果蝇自然种群中的氏族变异：关于自然选择和中性过程的古老争论

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-22 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0348

Vitória H Miranda, Rafael Viana Amaral, Rodrigo Cogni

{"title":"Clinal variation in natural populations of Drosophila melanogaster: An old debate about natural selection and neutral processes.","authors":"Vitória H Miranda, Rafael Viana Amaral, Rodrigo Cogni","doi":"10.1590/1678-4685-GMB-2023-0348","DOIUrl":"10.1590/1678-4685-GMB-2023-0348","url":null,"abstract":"Distinguishing between environmental adaptations and neutral processes poses a challenge in population genetics and evolutionary studies, particularly when phenomena can be explained by both processes. Clines are genotypic or phenotypic characters correlated with environmental variables, because of that correlation, they are used as examples of spatially varying selection. At the same time, many genotypic clines can be explained by demographic history, like isolation by distance or secondary contact zones. Clines have been extensively studied in Drosophila melanogaster, especially in North America and Australia, where they are attributed to both differential selection and various demographic processes. This review explores existing literature supporting this conclusion and suggests new approaches to better understand the influence of these processes on clines. These innovative approaches aim to shed light on the longstanding debate regarding the importance of natural selection versus neutral processes in maintaining variation in natural populations.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20230348"},"PeriodicalIF":1.7,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11262002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733928","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

Expression profiling by high-throughput sequencing reveals GADD45, SMAD7, EGR-1 and HOXA3 activation in Myostatin (MSTN) and GDF11 treated myoblasts. 通过高通量测序分析表明，在 Myostatin (MSTN) 和 GDF11 处理的成肌细胞中，GADD45、SMAD7、EGR-1 和 HOXA3 被激活。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-15 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0304

Platon Braun, Malik Alawi, Ceren Saygi, Klaus Pantel, Amy J Wagers

{"title":"Expression profiling by high-throughput sequencing reveals GADD45, SMAD7, EGR-1 and HOXA3 activation in Myostatin (MSTN) and GDF11 treated myoblasts.","authors":"Platon Braun, Malik Alawi, Ceren Saygi, Klaus Pantel, Amy J Wagers","doi":"10.1590/1678-4685-GMB-2023-0304","DOIUrl":"10.1590/1678-4685-GMB-2023-0304","url":null,"abstract":"Growth differentiation factor 11 (GDF11) and myostatin (MSTN/GDF8) are closely related members of the transforming growth factor β (TGFβ) superfamily, sharing structural homology. Despite these structural similarities, recent research has shed light on the distinct roles these ligands play within muscle tissue. This study aims to uncover both the differences and similarities in gene expression at the transcriptome level by utilizing RNA sequencing. We conducted experiments involving five distinct groups, each with three biological replicates, using C2C12 cell cultures. The cells were subjected to high-throughput profiling to investigate disparities in gene expression patterns following preconditioning with either GDF11 or MSTN at concentrations of 1 nM and 10 nM, respectively. In addition, control groups were established. Our research revealed concentration-dependent gene expression patterns, with 38 genes showing significant differences when compared to the control groups. Notably, GADD45, SMAD7, EGR-1, and HOXA3 exhibited significant differential expression. We also conducted an over-representation analysis, highlighting the activation of MAPK and JNK signaling pathways, along with GO-terms related to genes that negatively regulate metabolic processes, biosynthesis, and protein phosphorylation. This study unveiled the activation of several genes not previously discussed in existing literature whose full biological implications are yet to be determined in future research.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230304"},"PeriodicalIF":1.7,"publicationDate":"2024-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11256782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619716","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

Partial molecular characterization, expression pattern and polymorphism analysis of MHC I genes in Chinese domestic goose (Anser cygnoides). 中国家鹅（Anser cygnoides）MHC I 基因的部分分子特征、表达模式和多态性分析。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-08 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2022-0252

Qianqian Zeng, Xiaojie Li, Xiaomin Shi, Shigan Yan

{"title":"Partial molecular characterization, expression pattern and polymorphism analysis of MHC I genes in Chinese domestic goose (Anser cygnoides).","authors":"Qianqian Zeng, Xiaojie Li, Xiaomin Shi, Shigan Yan","doi":"10.1590/1678-4685-GMB-2022-0252","DOIUrl":"10.1590/1678-4685-GMB-2022-0252","url":null,"abstract":"Major histocompatibility complex (MHC) allelic polymorphism is critically important for mediating antigen presentation in vertebrates. Presently, there are insufficient studies of MHC genetic diversity in domestic Anseriform birds. In this study, we analyzed the expression profile of MHC I genes and screened for MHC I exon 2 polymorphism in one domestic goose population from China using Illumina MiSeq sequencing. The results showed that four MHC I alleles (Ancy-IE2*09/*11/*13/*21) in one goose were identified based on cDNA cloning and sequencing using four primer combinations, and the varying number of cDNA clones implied that these four classical sequences showed differential expression patterns. Through next-generation sequencing, 27 alleles were obtained from 68 geese with 3-10 putative alleles per individual, indicating at least the existence of 5 MHC I loci in the goose. The marked excess of the non-synonymous over the synonymous substitution in the peptide-binding region (PBR) along 27 alleles and five positively selected sites (PSSs) detected around the PBR indicated that balancing selection might be the major force in shaping high MHC variation in the goose. Additionally, IA alleles displaying lower polymorphism were subject to less positive selection pressure than non-IA alleles with a higher level of polymorphism.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20220252"},"PeriodicalIF":1.7,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619717","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

Exploring mood disorders and treatment options using human stem cells. 利用人类干细胞探索情绪障碍和治疗方案。

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-01 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0305

Autumn Hudock, Zaira Paulina Leal, Amandeep Sharma, Arianna Mei, Renata Santos, Maria Carolina Marchetto

{"title":"Exploring mood disorders and treatment options using human stem cells.","authors":"Autumn Hudock, Zaira Paulina Leal, Amandeep Sharma, Arianna Mei, Renata Santos, Maria Carolina Marchetto","doi":"10.1590/1678-4685-GMB-2023-0305","DOIUrl":"10.1590/1678-4685-GMB-2023-0305","url":null,"abstract":"Despite their global prevalence, the mechanisms for mood disorders like bipolar disorder and major depressive disorder remain largely misunderstood. Mood stabilizers and antidepressants, although useful and effective for some, do not have a high responsiveness rate across those with these conditions. One reason for low responsiveness to these drugs is patient heterogeneity, meaning there is diversity in patient characteristics relating to genetics, etiology, and environment affecting treatment. In the past two decades, novel induced pluripotent stem cell (iPSC) research and technology have enabled the use of human-derived brain cells as a new model to study human disease that can help account for patient variance. Human iPSC technology is an emerging tool to better understand the molecular mechanisms of these disorders as well as a platform to test novel treatments and existing pharmaceuticals. This literature review describes the use of iPSC technology to model bipolar and major depressive disorder, common medications used to treat these disorders, and novel patient-derived alternative treatment methods for non-responders stemming from past publications, as well as presenting new data derived from these models.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47Suppl 1 Suppl 1","pages":"e20230305"},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11223183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141491625","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

ΔNp63α promotes cigarette smoke-induced renal cancer stem cell activity via the Sonic Hedgehog pathway. ΔNp63α通过Sonic Hedgehog途径促进香烟烟雾诱导的肾癌干细胞活性

IF 1.7 4区生物学

Genetics and Molecular Biology Pub Date : 2024-07-01 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0347

Yuxiang Zhao, Nannan Ma, Wanngyu Wu, Ying Wu, Wenbo Zhang, Weiwei Qian, Xin Sun, Tao Zhang

{"title":"ΔNp63α promotes cigarette smoke-induced renal cancer stem cell activity via the Sonic Hedgehog pathway.","authors":"Yuxiang Zhao, Nannan Ma, Wanngyu Wu, Ying Wu, Wenbo Zhang, Weiwei Qian, Xin Sun, Tao Zhang","doi":"10.1590/1678-4685-GMB-2023-0347","DOIUrl":"10.1590/1678-4685-GMB-2023-0347","url":null,"abstract":"Cigarette smoke (CS) has been generally recognized as a chief carcinogenic factor in renal cell carcinoma (RCC). The stimulative effect of CS on renal cancer stem cells (RCSCs) has been described previously. The Sonic Hedgehog (SHH) pathway plays an essential role in self-renewal, cell growth, drug resistance, metastasis, and recurrence of cancer stem cells (CSCs). Renal cancer-related gene ΔNp63α is highly expressed in renal epithelial tissues and contributes to the RCSCs characteristics of tumors. The aim of this study was to elucidate the role of ΔNp63α and the SHH pathway on the activity of RCSCs induced by CS through a series of in vivo and in vitro studies. It was shown that in renal cancer tissues, ΔNp63α and RCSCs markers in smokers are expressed higher than that in non-smokers. RCSCs were effectively enriched by tumor sphere formation assay. Besides, CS increased the expression of RCSCs markers and the capability of sphere-forming in vitro and in vivo. Moreover, the SHH pathway was activated, and the specialized inhibitor alleviated the promotion of CS on RCSCs. ΔNp63α activated the SHH pathway and promoted CS-induced enhancement of RCSCs activity. These findings indicate that ΔNp63α positively regulates the activity of CS-induced RCSCs via the SHH pathway.","PeriodicalId":12557,"journal":{"name":"Genetics and Molecular Biology","volume":"47 2","pages":"e20230347"},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11234498/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563217","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