Genetics and Molecular Biology最新文献_第5页

Genetic diversity and conservation in Bromeliaceae based on SSR markers. 基于 SSR 标记的凤梨科植物遗传多样性和保护。

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-26 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0135

Milene Ferreira Barcellos, Laís Mara Santana Costa, Fernanda Bered

Bromeliaceae has been used as a model Neotropical group to study evolutionary and diversification processes. Moreover, since large parts of the Neotropics are under anthropogenic pressure, a high percentage of possibly threatened species occurs. Despite this, concrete proposals for conservation based on genetic data are lacking. We compilated all genetic data obtained by nuclear microsatellites for Bromeliaceae and compared the levels of genetic diversity of subfamilies and their taxa, considering traits of life history and distribution in conservation and no conservation areas. We retrieved a total of 87 taxa (ca. 2.5% of the family size) and most present a mixed mating system, anemochoric dispersion, are ornithophilous, and were sampled outside Conservation Units, the majority occurring in the Atlantic Forest. Also, we found differences in some genetic indexes among taxa concerning seed dispersal mechanisms (e.g. Zoochoric taxa with higher diversity and lower inbreeding), mating systems (e.g. autogamous taxa showed higher inbreeding), outside/inside conservation units (allelic richness higher in not protected areas), and among different subfamilies (e.g. higher genetic diversity in Bromelioideae). The results obtained in this review can be useful for proposing conservation strategies, can facilitate the comparison of related taxa, and can help advance studies on the Bromeliaceae family.

凤梨科（Bromeliaceae）一直被用作研究进化和多样化过程的新热带族群模型。此外，由于新热带地区的大部分地区受到人类活动的压力，可能受到威胁的物种比例很高。尽管如此，基于遗传数据的具体保护建议仍然缺乏。我们汇编了通过核微卫星获得的所有凤梨科遗传数据，并比较了亚科及其类群的遗传多样性水平，同时考虑了生活史特征以及在保护区和非保护区的分布情况。我们共检索到 87 个类群（约占科数的 2.5%），其中大多数类群具有混合交配系统、风媒散布、嗜鸟，并且在保护区外取样，大多数类群分布在大西洋森林中。此外，我们还发现，在种子传播机制（如Zoochoric类群具有较高的多样性和较低的近亲繁殖率）、交配系统（如自交类群具有较高的近亲繁殖率）、保护单位内外（非保护区的等位基因丰富度较高）以及不同亚科（如Bromelioideae的遗传多样性较高）等方面，类群之间的一些遗传指标存在差异。本综述得出的结果有助于提出保护策略，促进相关类群的比较，并有助于推动对凤梨科的研究。

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引用次数: 0

Phylomitogenomics of two Neotropical species of long-legged crickets Endecous Saussure, 1878 (Orthoptera: Phalangopsidae) 两个长腿蟋蟀新热带种的系统发生组学 Endecous Saussure, 1878 (Orthoptera: Phalangopsidae)

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-15 DOI: 10.1590/1678-4685-gmb-2023-0144

A. F. E. Silva, H. R. Antoniolli, E. Zefa, V. L. S. Valente, M. Deprá

Abstract Mitochondrial genomes have provided significant insights into the evolution of several insects. A typical mitogenome contains 37 genes, and variations in gene order can indicate evolutionary relationships between species. In this study, we have assembled the first complete mitogenomes of Endecous chape and E. onthophagus and analyzed the phylogenetic implications for the Gryllidea infraorder. We performed DNA extractions and genome sequencing for both Endecous species. Subsequently, we searched for raw data in the Sequence Read Archive (SRA) in NCBI. Using the SRA data, we assembled the partial mitogenome of Dianemobius nigrofasciatus and annotated the protein-coding genes (PCGs) for nine species. Phylogenomic relationships were reconstructed using Maximum Likelihood (ML) and Bayesian Inference (BI), utilizing the PCGs from 49 Gryllidea species. The mitogenome lengths of E. chape and E. onthophagus are 16,266 bp and 16,023 bp, respectively, while D. nigrofasciatus has a length of 15,359 bp. Our results indicate that species within the infraorder exhibit four types of gene order arrangements that align with their phylogenetic relationships. Both phylogenomic trees displayed strong support, and the ML corroborated with the literature. Gryllidea species have significantly contributed to various fields, and studying their mitogenomes can provide valuable insights into this infraorder evolution.

摘要线粒体基因组为了解几种昆虫的进化提供了重要信息。一个典型的有丝分裂基因组包含 37 个基因，基因顺序的变化可以表明物种之间的进化关系。在这项研究中，我们首次组装了Endecous chape和E. onthophagus的完整有丝分裂基因组，并分析了其对蝼蛄亚目系统发育的影响。我们对这两个Endecous物种进行了DNA提取和基因组测序。随后，我们在 NCBI 的序列读取档案（SRA）中搜索原始数据。利用 SRA 数据，我们组装了黑线栉水母（Dianemobius nigrofasciatus）的部分有丝分裂基因组，并注释了 9 个物种的蛋白质编码基因（PCGs）。利用最大似然法（ML）和贝叶斯推断法（BI）重建了 49 个蝼蛄物种的系统发生关系。E. chape 和 E. onthophagus 的有丝分裂基因组长度分别为 16,266 bp 和 16,023 bp，而 D. nigrofasciatus 的长度为 15,359 bp。我们的研究结果表明，下目中的物种表现出四种类型的基因顺序排列，这与它们的系统发育关系相一致。两个系统发生树都显示出很强的支持性，ML 与文献相吻合。蝼蛄属物种在各个领域都做出了重要贡献，研究它们的有丝分裂基因组可以为了解蝼蛄下目进化提供有价值的信息。

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引用次数: 0

GJB2 c.35del variant up-regulates GJA1 gene expression and affects differentiation of human stem cells GJB2 c.35del 变异可上调 GJA1 基因的表达并影响人类干细胞的分化

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-15 DOI: 10.1590/1678-4685-GMB-2023-0170

A. C. Batissoco, Dayane Bernardino Cruz, Thiago Geronimo Pires Alegria, Gerson Kobayashi, J. Oiticica, Luís Eduardo Soares Netto, M. Passos-Bueno, L. A. Haddad, R. C. Mingroni Netto

Abstract Pathogenic DNA alterations in GJB2 are present in nearly half of non-syndromic hearing loss cases with autosomal recessive inheritance. The most frequent variant in GJB2 causing non-syndromic hearing loss is the frameshifting c.35del. GJB2 encodes Cx26, a protein of the connexin family that assembles hemichannels and gap junctions. The expression of paralogous proteins is believed to compensate for the loss of function of specific connexins. As Cx26 has been involved in cell differentiation in distinct tissues, we employed stem cells derived from human exfoliated deciduous teeth (SHEDs), homozygous for the c.35del variant, to assess GJB2 roles in stem cell differentiation and the relationship between its loss of function and the expression of paralogous genes. Primary SHED cultures from patients and control individuals were compared. SHEDs from patients had significantly less GJB2 mRNA and increased amount of GJA1 (Cx43), but not GJB6 (Cx30) or GJB3 (Cx31) mRNA. In addition, they presented higher induced differentiation to adipocytes and osteocytes but lower chondrocyte differentiation. Our results suggest that GJA1 increased expression may be involved in functional compensation for GJB2 loss of function in human stem cells, and it may explain changes in differentiation properties observed in SHEDs with and without the c.35del variant.

摘要在常染色体隐性遗传的非综合征听力损失病例中，近一半存在 GJB2 的致病性 DNA 改变。导致非综合征性听力损失的 GJB2 最常见变异是框架转换 c.35del。GJB2 编码 Cx26，Cx26 是连接蛋白家族的一种蛋白质，可组装半通道和间隙连接。旁系亲属蛋白的表达被认为可以弥补特定连接蛋白功能的缺失。由于Cx26参与了不同组织的细胞分化，我们采用了来自人类脱落牙齿（SHEDs）的干细胞（c.35del变体同源），以评估GJB2在干细胞分化中的作用及其功能缺失与旁系基因表达之间的关系。研究人员比较了患者和对照组的原始SHED培养物。患者的SHED的GJB2 mRNA明显减少，GJA1（Cx43）的含量增加，但GJB6（Cx30）或GJB3（Cx31）的mRNA没有增加。此外，它们向脂肪细胞和骨细胞的诱导分化较高，但软骨细胞分化较低。我们的研究结果表明，GJA1表达的增加可能参与了人类干细胞GJB2功能缺失的功能补偿，这可能解释了在有c.35del变异和无c.35del变异的SHEDs中观察到的分化特性变化。

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引用次数: 0

Investigating the shared genetic architecture between breast and ovarian cancers 研究乳腺癌和卵巢癌的共同基因结构

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-15 DOI: 10.1590/1678-4685-GMB-2023-0181

Xuezhong Shi, Anqi Bu, Yongli Yang, Yuping Wang, Chenyu Zhao, Jingwen Fan, Chaojun Yang, X. Jia

Abstract High heritability and strong correlation have been observed in breast and ovarian cancers. However, their shared genetic architecture remained unclear. Linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics (ρ-HESS) were applied to estimate heritability and genetic correlations. Bivariate causal mixture model (MiXeR) was used to qualify the polygenic overlap. Then, stratified-LDSC (S-LDSC) was used to identify tissue and cell type specificity. Meanwhile, the adaptive association test called MTaSPUsSet was performed to identify potential pleiotropic genes. The Single Nucleotide Polymorphisms (SNP) heritability was 13% for breast cancer and 5% for ovarian cancer. There was a significant genetic correlation between breast and ovarian cancers (rg=0.21). Breast and ovarian cancers exhibited polygenic overlap, sharing 0.4 K out 2.8 K of causal variants. Tissue and cell type specificity displayed significant enrichment in female breast mammary, uterus, kidney tissues, and adipose cell. Moreover, the 74 potential pleiotropic genes were identified between breast and ovarian cancers, which were related to the regulation of cell cycle and cell death. We quantified the shared genetic architecture between breast and ovarian cancers and shed light on the biological basis of the co-morbidity. Ultimately, these findings facilitated the understanding of disease etiology.

摘要已观察到乳腺癌和卵巢癌具有高遗传性和强相关性。然而，它们的共同遗传结构仍不清楚。应用连锁不平衡评分回归（LDSC）和遗传率估计汇总统计（ρ-HESS）来估计遗传率和遗传相关性。双变量因果混合物模型（MiXeR）用于鉴定多基因重叠。然后，使用分层-LDSC（S-LDSC）来确定组织和细胞类型特异性。同时，进行了名为 MTaSPUsSet 的自适应关联测试，以确定潜在的多效基因。乳腺癌的单核苷酸多态性（SNP）遗传率为13%，卵巢癌为5%。乳腺癌和卵巢癌之间存在明显的遗传相关性（rg=0.21）。乳腺癌和卵巢癌表现出多基因重叠，在 2.8 K 个因果变异中，有 0.4 K 个共享。组织和细胞类型特异性在女性乳腺、子宫、肾脏组织和脂肪细胞中显示出明显的富集。此外，在乳腺癌和卵巢癌之间发现了 74 个潜在的多效基因，这些基因与细胞周期和细胞死亡调控有关。我们量化了乳腺癌和卵巢癌之间的共同遗传结构，并揭示了共病的生物学基础。这些发现最终有助于人们了解疾病的病因。

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引用次数: 0

Putative protective genomic variation in the Lithuanian population 立陶宛人口中潜在的保护性基因组变异

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-15 DOI: 10.1590/1678-4685-GMB-2023-0030

Gabrielė Žukauskaitė, I. Domarkienė, Tautvydas Rančelis, Ingrida Kavaliauskienė, Karolis Baronas, V. Kučinskas, L. Ambrozaitytė

Abstract Genomic effect variants associated with survival and protection against complex diseases vary between populations due to microevolutionary processes. The aim of this study was to analyse diversity and distribution of effect variants in a context of potential positive selection. In total, 475 individuals of Lithuanian origin were genotyped using high-throughput scanning and/or sequencing technologies. Allele frequency analysis for the pre-selected effect variants was performed using the catalogue of single nucleotide polymorphisms. Comparison of the pre-selected effect variants with variants in primate species was carried out to ascertain which allele was derived and potentially of protective nature. Recent positive selection analysis was performed to verify this protective effect. Four variants having significantly different frequencies compared to European populations were identified while two other variants reached borderline significance. Effect variant in SLC30A8 gene may potentially protect against type 2 diabetes. The existing paradox of high rates of type 2 diabetes in the Lithuanian population and the relatively high frequencies of potentially protective genome variants against it indicate a lack of knowledge about the interactions between environmental factors, regulatory regions, and other genome variation. Identification of effect variants is a step towards better understanding of the microevolutionary processes, etiopathogenetic mechanisms, and personalised medicine.

摘要由于微进化过程的影响，不同种群之间与复杂疾病的存活和防护有关的基因组效应变异各不相同。本研究旨在分析潜在正向选择背景下效应变体的多样性和分布情况。利用高通量扫描和/或测序技术，共对 475 名立陶宛裔个体进行了基因分型。利用单核苷酸多态性目录对预选的效应变异体进行了等位基因频率分析。将预选的效应变异与灵长类物种中的变异进行了比较，以确定哪个等位基因是衍生的，并可能具有保护性质。最近还进行了正选择分析，以验证这种保护作用。结果发现，有四个变异体的频率与欧洲种群有明显差异，而另外两个变异体的频率则达到了边缘显著性。SLC30A8 基因的效应变异可能对 2 型糖尿病有潜在的保护作用。立陶宛人口中 2 型糖尿病发病率较高，而对 2 型糖尿病具有潜在保护作用的基因组变异频率相对较高，这种矛盾现象表明人们对环境因素、调控区域和其他基因组变异之间的相互作用缺乏了解。识别效应变异是更好地理解微进化过程、病因机制和个性化医疗的一个步骤。

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引用次数: 0

Breeding for reduced seed dormancy to domesticate new grass species. 通过育种降低种子休眠，驯化新的草种。

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-12 eCollection Date: 2024-01-01 DOI: 10.1590/1678-4685-GMB-2023-0262

Nicolás Glison, Paola Gaiero, Eliana Monteverde, Pablo R Speranza

Introducing new grass species into cultivation has long been proposed as beneficial to increase the sustainability and diversity of productive systems. However, wild species with potential tend to show high seed dormancy, causing slow, poor, and unsynchronized seedling emergence. Meanwhile, domesticated species, such as cereals, show lower seed dormancy, facilitating their successful establishment. In this work, we conduct a review of phenotypic variation on seed dormancy and its genetic and molecular basis. This quantitative and highly heritable trait shows phenotype plasticity which is modulated by environmental factors. The level of dormancy depends on the expression of genes associated with the metabolism and sensitivity to the hormones abscisic acid (ABA) and gibberellins (GA), along with other dormancy-specific genes. The genetic regulation of these traits is highly conserved across species. The low seed dormancy observed in cereals and some temperate forages was mostly unconsciously selected during various domestication processes. Emphasis is placed on selecting materials with low seed dormancy for warm-season forage grasses to improve their establishment and adoption. Finally, we review advances in the domestication of dallisgrass, where seed dormancy was considered a focus trait throughout the process.

长期以来，人们一直认为将新草种引入种植有利于提高生产系统的可持续性和多样性。然而，具有潜力的野生物种往往表现出较高的种子休眠，导致出苗慢、出苗差、出苗不同步。与此同时，谷物等驯化物种的种子休眠较低，有利于其成功萌发。在这项工作中，我们回顾了种子休眠的表型变异及其遗传和分子基础。种子休眠这一高度遗传的定量性状具有表型可塑性，并受环境因素的调节。休眠水平取决于与脱落酸（ABA）和赤霉素（GA）激素代谢和敏感性相关的基因以及其他休眠特异性基因的表达。这些性状的遗传调控在不同物种间高度一致。在谷物和一些温带牧草中观察到的低种子休眠性大多是在各种驯化过程中无意识选择的。重点是为暖季型牧草选择种子休眠低的材料，以提高它们的建立和采用率。最后，我们回顾了达利草驯化的进展，种子休眠被认为是整个驯化过程中的重点性状。

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引用次数: 0

An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report 一名患有胱硫醚-β-合成酶缺乏症、驼背-关节病-Coxa vara-心包炎综合征和耳聋的成人：病例报告

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-08 DOI: 10.1590/1678-4685-GMB-2022-0335

K. Donis, M. Kalil, F. Poswar, Fernando Kok, C. L. Kohem, Soraia Poloni, Taciane Borsatto, F. Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz

Abstract Massive sequencing platforms allow the identification of complex clinical phenotypes involving more than one autosomal recessive disorder. In this study, we report on an adult patient, born to a related couple (third degree cousins), referred for genetic evaluation due to ectopia lentis, deafness and previous diagnosis of juvenile idiopathic arthritis. He was biochemically diagnosed as having Classic Homocystinuria (HCU); Sanger sequencing of the CBS gene showed the genotype NM_000071.2(CBS):c.[833T>C];[833T>C], compatible with the diagnosis of pyridoxine-responsive HCU. As he also had symptoms not usually associated with HCU, exome sequencing was performed. In addition to the variants found in the Sanger sequencing, the following variants were identified: NM_001256317.1(TMPRSS3):c.[413C>A];[413C>A]; and the NM_005807.6(PRG4):c.[3756dup]:[3756dup], confirming the diagnosis of autosomal recessive nonsyndromic deafness and Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome (CACP), respectively. Genomic analysis allowed the refinement of the diagnosis of a complex case and improvement of the patient’s treatment.

摘要大型测序平台可鉴定涉及一种以上常染色体隐性遗传疾病的复杂临床表型。在本研究中，我们报告了一对亲缘夫妻（三代表亲）所生的一名成年患者，该患者因眼睑外翻、耳聋和既往诊断为幼年特发性关节炎而转诊进行遗传学评估。他被生化诊断为典型高胱氨酸尿症（HCU）；CBS 基因的 Sanger 测序显示基因型为 NM_000071.2(CBS):c.[833T>C];[833T>C]，符合吡哆醇反应性 HCU 的诊断。由于他还出现了通常与 HCU 无关的症状，因此对他进行了外显子组测序。除了在桑格测序中发现的变异外，还发现了以下变异：NM_001256317.1(TMPRSS3):c.[413C>A];[413C>A];和NM_005807.6(PRG4):c.[3756dup]:[3756dup]，分别确诊为常染色体隐性非综合征性耳聋和驼背-关节病-心包炎综合征（CACP）。基因组分析有助于完善对这一复杂病例的诊断，并改进对患者的治疗。

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引用次数: 0

Morphological and transcriptional analysis of Colletotrichum lindemuthianum race 7 during early stages of infection in common bean 蚕豆感染 Colletotrichum lindemuthianum race 7 早期阶段的形态学和转录分析

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-08 DOI: 10.1590/1678-4685-GMB-2022-0263

German Romero, Sandra González, Wendy Royero, Adriana González

Abstract The infection process of the hemibiotrophic fungus Colletotrichum lindemuthianum has been independently studied at the microscopic and genomic levels. However, the relationship between the morphological changes and the pathogenicity mechanisms of the fungus at the early stages of the infection remains uncharacterized. Therefore, this study attempts to bridge this gap by integrating microscopic and transcriptional approaches to understand the infection process of C. lindemuthianum. Fungal structures were followed by fluorescence microscopy for 120 hours. Simultaneously, the transcriptomic profile was made using RNAseq. Morphological characterization shows that appressoria, infective vesicles, and secondary hypha formation occur before 72 hours. Additionally, we assembled 38,206 transcripts with lengths between 201 and 3,548 bp. The secretome annotation revealed the expression of 1,204 CAZymes, of which 17 exhibited secretion domains and were identified as chitinases and β-1,3-glucanases, 27 were effector candidates, and 30 were transport proteins mostly associated with ABC-type. Finally, we confirmed the presence and expression of CAC1 role during the appressoria formation of Clr7. This result represents the first report of adenylate cyclase expression evaluated under three different approaches. In conclusion, C. lindemuthianum colonizes the host through different infection structures complemented with the expression of multiple enzymes, where CAC1 favors disease development.

摘要对半生真菌 Colletotrichum lindemuthianum 的感染过程已在显微镜和基因组水平上进行了独立研究。然而，该真菌在感染早期的形态变化与致病机制之间的关系仍未得到表征。因此，本研究试图通过整合显微镜和转录方法来了解 C. lindemuthianum 的感染过程，从而弥补这一空白。荧光显微镜对真菌结构进行了 120 小时的跟踪观察。同时，利用 RNAseq 对转录组进行了分析。形态特征显示，附着体、感染性囊泡和次生菌丝的形成发生在 72 小时之前。此外，我们还收集了长度在 201 到 3548 bp 之间的 38 206 个转录本。分泌组注释显示了 1,204 种 CAZymes 的表达，其中 17 种具有分泌结构域，被鉴定为几丁质酶和β-1,3-葡聚糖酶，27 种是候选的效应蛋白，30 种是主要与 ABC 型相关的转运蛋白。最后，我们证实了 CAC1 在 Clr7 的花被形成过程中的存在和表达。这一结果代表了首次通过三种不同方法评估腺苷酸环化酶表达的报告。总之，C. lindemuthianum 通过不同的感染结构在宿主体内定殖，并辅以多种酶的表达，其中 CAC1 有利于疾病的发展。

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引用次数: 0

LTBP2 regulates cisplatin resistance in GC cells via activation of the NF-κB2/BCL3 pathway LTBP2 通过激活 NF-κB2/BCL3 通路调节 GC 细胞的顺铂耐药性

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-05 DOI: 10.1590/1678-4685-GMB-2023-0231

Jun Wang, Wenjia Liang, Xiangwen Wang, Zhao Chen, Lei Jiang

Abstract Gastric cancer (GC) often develops resistance to cisplatin treatment, but while latent transforming growth factor β-binding protein (LTBP2) is recognized as a potential regulator in GC, its specific role in cisplatin resistance is not fully understood. This study investigated LTBP2’s impact on cisplatin resistance in GC. LTBP2 expression was assessed in various GC cell lines, and its correlation with cisplatin sensitivity was determined through cell viability assays. Lentivirus-mediated LTBP2 silencing in HGC-27 cells demonstrated enhanced cisplatin sensitivity, reduced cell proliferation, and inhibition of the NF-κB2/Bcl-3/cyclin D1 pathway. Additionally, transient transfection overexpressed the NFκB2 gene in LTBP2-silenced HGC-27/DDPR cells, restoring cisplatin sensitivity and upregulating p52/Bcl-3/cyclin D1. In conclusion, silencing LTBP2 could effectively inhibit cell proliferation and mitigate cisplatin resistance via the NFKB noncanonical pathway NFKB2 p52/Bcl-3/cyclin D1. These findings propose LTBP2 as a potential therapeutic target for overcoming cisplatin resistance in GC patients.

摘要胃癌（GC）通常会对顺铂治疗产生耐药性，虽然潜伏转化生长因子β结合蛋白（LTBP2）被认为是胃癌的潜在调控因子，但其在顺铂耐药性中的具体作用尚未完全明了。本研究探讨了LTBP2对GC顺铂耐药性的影响。研究评估了各种 GC 细胞系中 LTBP2 的表达，并通过细胞活力测定确定了其与顺铂敏感性的相关性。慢病毒介导的 LTBP2 沉默在 HGC-27 细胞中显示出对顺铂敏感性的增强、细胞增殖的减少以及对 NF-κB2/Bcl-3/cyclin D1 通路的抑制。此外，在沉默了 LTBP2 的 HGC-27/DDPR 细胞中，瞬时转染过表达了 NFκB2 基因，从而恢复了顺铂敏感性并上调了 p52/Bcl-3/cyclin D1。总之，沉默LTBP2可有效抑制细胞增殖，并通过NFKB非典型途径NFKB2 p52/Bcl-3/cyclin D1减轻顺铂抗性。这些研究结果表明，LTBP2 是克服 GC 患者顺铂耐药性的潜在治疗靶点。

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引用次数: 0

Homocysteine and methylmalonic acid in Phenylketonuria patients 苯丙酮尿症患者体内的同型半胱氨酸和甲基丙二酸

IF 2.1 4区生物学 Q3 Biochemistry, Genetics and Molecular Biology

Genetics and Molecular Biology

Pub Date : 2024-04-05 DOI: 10.1590/1678-4685-gmb-2023-0103

Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz

Abstract Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients. Comparisons were made between pre- and post-treatment values (n= 3); on treatment values, between periods with high and normal/low phenylalanine (Phe) levels (n= 20); and in women before, during and after pregnancy (n= 3). THcy levels decreased after treating PKU with metabolic formula (p=0.014). Except for a pregnant woman before pregnancy, none of the patients had tHcy values above the normal range. In fact, tHcy was < 5 μmol/L in 34% of the samples. We observed a decrease in Phe, tHcy, and tyrosine levels during pregnancy. MMA levels did not differ significantly, with values remaining in the normal range. These data indicate that there was no B12 deficiency in patients who adhere to the diet. In conclusion, in PKU patients treated with metabolic formula, tHcy is frequently not elevated, remaining even in the lower normal range in some patients. Thus, clinical follow-up and adherence to dietary treatment are crucial to prevent B12 deficiency.

摘要据报道，苯丙酮尿症患者存在高同型半胱氨酸血症和维生素 B12 缺乏症。本研究分析了 25 名苯丙酮尿症（PKU）患者样本中的总同型半胱氨酸（tHcy）和甲基丙二酸（MMA）水平。比较了治疗前和治疗后的数值（3 人）；治疗值、苯丙氨酸（Phe）水平高和正常/低的时期（20 人）；以及妇女怀孕前、怀孕期间和怀孕后的数值（3 人）。使用代谢配方治疗 PKU 后，THcy 水平下降（p=0.014）。除一名怀孕前的孕妇外，其他患者的 tHcy 值均未超过正常范围。事实上，34% 的样本中 tHcy 值小于 5 μmol/L。我们观察到，妊娠期间 Phe、tHcy 和酪氨酸水平均有所下降。MMA 的水平差异不大，仍处于正常范围。这些数据表明，坚持饮食的患者不会出现 B12 缺乏症。总之，在接受代谢配方治疗的 PKU 患者中，tHcy 通常不会升高，有些患者甚至会保持在正常值的较低范围。因此，临床随访和坚持饮食治疗对预防 B12 缺乏至关重要。

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引用次数: 0