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Innovating Cancer Treatment Through Cell Cycle, Telomerase, Angiogenesis, and Metastasis. 通过细胞周期、端粒酶、血管生成和转移创新癌症治疗。
DNA and cell biology Pub Date : 2024-09-01 Epub Date: 2024-07-17 DOI: 10.1089/dna.2024.0109
Tooba Yousefi, Bahareh Mohammadi Jobani, Reyhaneh Taebi, Durdi Qujeq
{"title":"Innovating Cancer Treatment Through Cell Cycle, Telomerase, Angiogenesis, and Metastasis.","authors":"Tooba Yousefi, Bahareh Mohammadi Jobani, Reyhaneh Taebi, Durdi Qujeq","doi":"10.1089/dna.2024.0109","DOIUrl":"10.1089/dna.2024.0109","url":null,"abstract":"<p><p>Cancer remains a formidable challenge in the field of medicine, necessitating innovative therapeutic strategies to combat its relentless progression. The cell cycle, a tightly regulated process governing cell growth and division, plays a pivotal role in cancer development. Dysregulation of the cell cycle allows cancer cells to proliferate uncontrollably. Therapeutic interventions designed to disrupt the cell cycle offer promise in restraining tumor growth and progression. Telomerase, an enzyme responsible for maintaining telomere length, is often overactive in cancer cells, conferring them with immortality. Targeting telomerase presents an opportunity to limit the replicative potential of cancer cells and hinder tumor growth. Angiogenesis, the formation of new blood vessels, is essential for tumor growth and metastasis. Strategies aimed at inhibiting angiogenesis seek to deprive tumors of their vital blood supply, thereby impeding their progression. Metastasis, the spread of cancer cells from the primary tumor to distant sites, is a major challenge in cancer therapy. Research efforts are focused on understanding the underlying mechanisms of metastasis and developing interventions to disrupt this deadly process. This review provides a glimpse into the multifaceted approach to cancer therapy, addressing critical aspects of cancer biology-cell cycle regulation, telomerase activity, angiogenesis, and metastasis. Through ongoing research and innovative strategies, the field of oncology continues to advance, offering new hope for improved treatment outcomes and enhanced quality of life for cancer patients.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"438-451"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141636236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rosalind Franklin Society Proudly Announces the 2023 Award Recipient for DNA and Cell Biology. 罗莎琳德-富兰克林学会自豪地宣布 2023 年 DNA 和细胞生物学奖得主。
DNA and cell biology Pub Date : 2024-09-01 DOI: 10.1089/dna.2024.22445.rfs2023
Wanda Marini
{"title":"Rosalind Franklin Society Proudly Announces the 2023 Award Recipient for <i>DNA and Cell Biology</i>.","authors":"Wanda Marini","doi":"10.1089/dna.2024.22445.rfs2023","DOIUrl":"https://doi.org/10.1089/dna.2024.22445.rfs2023","url":null,"abstract":"","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":"43 9","pages":"425"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142304563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Histidine Kinase QseC in Glaesserella parasuis Enhances the Secretion of Proinflammatory Cytokines by Macrophages via the p38 and NF-κB Signaling Pathways. 寄生褐藻中的组氨酸激酶 QseC 通过 p38 和 NF-κB 信号通路促进巨噬细胞分泌促炎细胞因子。
DNA and cell biology Pub Date : 2024-09-01 Epub Date: 2024-07-24 DOI: 10.1089/dna.2024.0078
Xuefeng Yan, Congwei Gu, Zehui Yu, Mingde Zhao, Lvqin He
{"title":"Histidine Kinase QseC in <i>Glaesserella parasuis</i> Enhances the Secretion of Proinflammatory Cytokines by Macrophages via the p38 and NF-κB Signaling Pathways.","authors":"Xuefeng Yan, Congwei Gu, Zehui Yu, Mingde Zhao, Lvqin He","doi":"10.1089/dna.2024.0078","DOIUrl":"10.1089/dna.2024.0078","url":null,"abstract":"<p><p>The <i>qseC</i> gene is a two-component system that encodes a histidine protein kinase and is highly conserved among different <i>Glaesserella parasuis</i> strains. In this study, we used qRT-PCR and enzyme-linked immunosorbent assay to confirm that Toll-like receptor 4 (TLR4) plays a role in the expression of proinflammatory cytokines interleukin (IL)-1β and IL-6 by stimulating RAW 264.7 macrophages with QseC. Furthermore, we revealed that blocking the p38 and NF-κB pathways that regulate signaling can significantly reduce the production of proinflammatory cytokines induced by QseC. In summary, our data suggest that QseC is a novel proinflammatory mediator that induces TLR4-dependent proinflammatory activity in RAW 264.7 macrophages through the p38 and NF-κB pathways.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"474-481"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141763437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ANGPTL4 Stabilizes Bone Morphogenetic Protein 7 Through Deubiquitination and Promotes HCC Proliferation via the SMAD/MAPK Pathway. ANGPTL4 通过去泛素化稳定骨形态发生蛋白 7 并通过 SMAD/MAPK 途径促进 HCC 增殖
DNA and cell biology Pub Date : 2024-08-01 Epub Date: 2024-06-03 DOI: 10.1089/dna.2024.0022
Yun Bai, Guanghua Cui, Xiaoke Sun, Meiqi Wei, Yanying Liu, Jialu Guo, Yu Yang
{"title":"ANGPTL4 Stabilizes Bone Morphogenetic Protein 7 Through Deubiquitination and Promotes HCC Proliferation via the SMAD/MAPK Pathway.","authors":"Yun Bai, Guanghua Cui, Xiaoke Sun, Meiqi Wei, Yanying Liu, Jialu Guo, Yu Yang","doi":"10.1089/dna.2024.0022","DOIUrl":"10.1089/dna.2024.0022","url":null,"abstract":"<p><p>This study aimed to determine the function of angiopoietin-related protein 4 (ANGPTL4) and bone morphogenetic protein 7 (BMP7) on hepatocellular carcinoma (HCC). Overexpressing plasmids were cotransfected into HepG2 cells to determine the interaction between ANGPTL4 and BMP7. The effect of ANGPTL4 on the stability of BMP7 is examined by detecting the expression and ubiquitination levels. <i>In vitro</i> and <i>in vivo</i> experiments of knocking down ANGPTL4 while overexpressing BMP7 were performed to investigate whether the effects of ANGPTL4 on HCC proliferation, migration, and downstream signaling pathways were dependent on BMP7. ANGPTL4 is able to interact with BMP7, and knockdown of ANGPTL4 increased BMP7 expression and ubiquitination. Overexpression of BMP7 reversed the inhibition of HCC proliferation and migration as well as the decrease in the expression levels of Smad1/5/8 and MAPK14 caused by knockdown of ANGPTL4. ANGPTL4 promotes the proliferation and migration of HCC by inhibiting the ubiquitination degradation of BMP7 and the Smad/MAPK pathway, providing a novel mechanism and a potential therapeutic target for the treatment of HCC.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"395-400"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141201538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Low and High-Normal FMR1 Triplet Cytosine, Guanine Guanine Repeats Affect Ovarian Reserve and Fertility in Women Who Underwent In Vitro Fertilization Treatment? Results from a Cross-Sectional Study. FMR1三重胞嘧啶、鸟嘌呤重复序列的低正常值和高正常值会影响接受体外受精治疗的妇女的卵巢储备功能和生育能力吗?一项横断面研究的结果。
DNA and cell biology Pub Date : 2024-08-01 Epub Date: 2024-06-18 DOI: 10.1089/dna.2023.0395
Ana Carolina Vasconcelos Nunes, Camila Martins Trevisan, Carla Peluso, Flavia Althman Loureiro, Alexandre Torchio Dias, Daniel Rincon, Fernando Luiz Affonso Fonseca, Denise Maria Christofolini, Antonio Simone Laganà, Erik Montagna, Caio Parente Barbosa, Bianca Bianco
{"title":"Low and High-Normal <i>FMR1</i> Triplet Cytosine, Guanine Guanine Repeats Affect Ovarian Reserve and Fertility in Women Who Underwent <i>In Vitro</i> Fertilization Treatment? Results from a Cross-Sectional Study.","authors":"Ana Carolina Vasconcelos Nunes, Camila Martins Trevisan, Carla Peluso, Flavia Althman Loureiro, Alexandre Torchio Dias, Daniel Rincon, Fernando Luiz Affonso Fonseca, Denise Maria Christofolini, Antonio Simone Laganà, Erik Montagna, Caio Parente Barbosa, Bianca Bianco","doi":"10.1089/dna.2023.0395","DOIUrl":"10.1089/dna.2023.0395","url":null,"abstract":"<p><p>Dynamic mutations in the 5' untranslated region of <i>FMR1</i> are associated with infertility. Premutation alleles interfere with prenatal development and increase infertility risks. The number of CGG repeats that causes the highest decrease in ovarian reserves remains unclear. We evaluated the effect of <i>FMR1</i> CGG repeat lengths on ovarian reserves and <i>in vitro</i> fertilization (IVF) treatment outcomes in 272 women with alleles within the normal range. <i>FMR1</i> CGG repeat length was investigated via PCR and capillary electrophoresis. Alleles were classified as low-normal, normal, and high-normal. Serum levels of follicle-stimulating hormone and anti-Mullerian hormone (AMH) in the follicular phase of the menstrual cycle were measured, and antral follicles (AFC) were counted. IVF outcomes were collected from medical records. Regarding <i>FMR1</i> CGG repeat length alleles, 63.2% of women presented at least one low-normal allele. Those carrying low-normal alleles had significantly lower AMH levels than women carrying normal or high-normal alleles. Low-normal/low-normal genotype was the most frequent, followed by low-normal/normal and normal/normal. A comparison of ovarian reserve markers and reproductive outcomes of the three most frequent genotypes revealed that AFC in the low-normal/normal genotype was significantly lower than the low-normal/low-normal genotype. The low number of <i>FMR1</i> CGG repeats affected AMH levels and AFC but not IVF outcomes per cycle of treatment.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"414-424"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141422226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
RNA Isoforms as Broad Targets for Cancer Immunotherapy. 作为癌症免疫疗法广泛靶点的 RNA 异构体。
DNA and cell biology Pub Date : 2024-08-01 Epub Date: 2024-05-21 DOI: 10.1089/dna.2024.0108
Guangyuan Li, Nathan Salomonis
{"title":"RNA Isoforms as Broad Targets for Cancer Immunotherapy.","authors":"Guangyuan Li, Nathan Salomonis","doi":"10.1089/dna.2024.0108","DOIUrl":"10.1089/dna.2024.0108","url":null,"abstract":"<p><p>While immunotherapy is typically reserved for cancer patients with a high mutational burden, neoantigens produced from post-transcriptional regulation provide a possible untapped reservoir of common immunogenic targets for new targeted cancer therapies. In this review, we describe new and emerging technologies, unconventional molecular targets and challenges for the precision immune targeting of diverse malignancies. In particular, we focus on the unique potential of targeting alternative mRNA isoforms as a source for broadly presented neoantigens and cell surface proteins. Finally, we discuss emerging challenges for alternative isoform immune targeting, with an emphasis <i>in silico</i> prioritization and high-throughput target validation.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"363-368"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141072432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Cardiovascular Benefits of Glucagon-Like Peptide-1 Receptor Agonists as Novel Diabetes Drugs Are Mediated via the Suppression of miR-203a-3p and miR-429 Expression. 胰高血糖素样肽-1 受体激动剂作为新型糖尿病药物对心血管的益处是通过抑制 miR-203a-3p 和 miR-429 的表达来实现的。
DNA and cell biology Pub Date : 2024-08-01 Epub Date: 2024-06-26 DOI: 10.1089/dna.2024.0052
Yanfen Liu, Dongying Nie, Xueyong Lou
{"title":"The Cardiovascular Benefits of Glucagon-Like Peptide-1 Receptor Agonists as Novel Diabetes Drugs Are Mediated via the Suppression of miR-203a-3p and miR-429 Expression.","authors":"Yanfen Liu, Dongying Nie, Xueyong Lou","doi":"10.1089/dna.2024.0052","DOIUrl":"10.1089/dna.2024.0052","url":null,"abstract":"<p><p>Coronary artery disease (CAD) is associated with a high fatality rate and a heavy global health care burden. Glucagon-like peptide-1 (GLP-1) exerts positive cardiovascular effects, although the molecular mechanisms are unclear. Therefore, this study aimed to verify whether the cardioprotective effects of GLP-1 are mediated through the regulation of micro-RNA (miRNA) expression. Follow-up assessments were conducted for 116 patients with type 2 diabetes mellitus (T2DM) alone (controls) and 123 patients with both T2DM and CAD. After matching, each group comprised 63 patients, and age, body mass index, and serum levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), triglycerides (TG), and hemoglobin A1C (HbA1c) were compared. Subsequently, the expression profiles of four circulating miRNAs (miR-203a-3p, miR-429, miR-205-5p, and miR-203b-5p) were assessed via quantitative reverse transcription real-time polymerase chain reaction in the 63 patients with diabetes and CAD between 6 months (baseline) and 12 months after the initiation of GLP-1 receptor (GLP-1R) therapy. As expected, the metabolic factors were significantly improved after 6 months of treatment with GLP-1R compared with pre-treatment values, and the expression levels of two of the miRNAs (miR-203a-3p and miR-429) decreased from baseline levels in those with diabetes and CAD. The results suggest that the cardiovascular benefits induced by GLP-1R are mediated via suppressed expression of two miRNAs: miR-203a-3p and miR-429.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"387-394"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141461379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Investigating the Effects of AL049796.1 Silencing in Inhibiting High Glucose-Induced Colorectal Cancer Progression. 研究 AL049796.1 基因沉默对抑制高血糖诱导的结直肠癌进展的影响
DNA and cell biology Pub Date : 2024-08-01 Epub Date: 2024-06-10 DOI: 10.1089/dna.2024.0069
Yan Liu, Qi Wang, Zicheng Sun, Haijun Chen, Luxiao Yue, Jiachen Yang, Zhe Li, Xiaohong Lv, Xiaojun Zhou
{"title":"Investigating the Effects of AL049796.1 Silencing in Inhibiting High Glucose-Induced Colorectal Cancer Progression.","authors":"Yan Liu, Qi Wang, Zicheng Sun, Haijun Chen, Luxiao Yue, Jiachen Yang, Zhe Li, Xiaohong Lv, Xiaojun Zhou","doi":"10.1089/dna.2024.0069","DOIUrl":"10.1089/dna.2024.0069","url":null,"abstract":"<p><p>Patients with colorectal cancer (CRC) and diabetes share many risk factors. Despite a strong association between diabetes and CRC being widely studied and confirmed, further genetic research is needed. This study found higher AL049796.1 and TEA domain transcription factor 1 (TEAD1) levels (both mRNA and protein) in CRC tissues of diabetic patients compared with nondiabetics, but no significant difference in miR-200b-3p levels. A positive correlation between AL049796.1 and TEAD1 protein existed regardless of diabetes status, whereas miR-200b-3p was only negatively correlated with TEAD1 protein in nondiabetic CRC tissues. <i>In vitro</i> experiments have shown that high glucose (HG) treatment increased AL049796.1 in CRC cells, and AL049796.1 silencing reduced HG-induced proliferation, migration and invasion, as well as connective tissue growth factor, cysteine-rich angiogenic inducer 61, and epidermal growth factor receptor protein expression. Mechanistic investigations indicated that AL049796.1 could mitigate suppression of miR-200b-3p on TEAD1 posttranscriptionally by acting as a competitive binder. <i>In vivo</i>, subcutaneous CRC tumors in streptozotocin (STZ)-induced mice grew significantly faster; AL049796.1 silencing did not affect the growth of subcutaneous CRC tumors but significantly reduced that of STZ-induced mice. Our study suggests that AL049796.1 independently contributes to the risk of CRC in diabetic patients, highlighting its potential as both a therapeutic target and a novel biomarker for CRC among individuals with diabetes.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"401-413"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immune System of Dental Pulp in Inflamed and Normal Tissue. 发炎和正常组织中牙髓的免疫系统
DNA and cell biology Pub Date : 2024-08-01 Epub Date: 2024-07-03 DOI: 10.1089/dna.2024.0044
Sepideh Sarfi, Ehsaneh Azaryan, Mohsen Naseri
{"title":"Immune System of Dental Pulp in Inflamed and Normal Tissue.","authors":"Sepideh Sarfi, Ehsaneh Azaryan, Mohsen Naseri","doi":"10.1089/dna.2024.0044","DOIUrl":"10.1089/dna.2024.0044","url":null,"abstract":"<p><p>Teeth are vulnerable to structural compromise, primarily attributed to carious lesions, in which microorganisms originating from the oral cavity deteriorate the mineralized structures of enamel and dentin, subsequently infiltrating the underlying soft connective tissue, known as the dental pulp. Nonetheless, dental pulp possesses the necessary capabilities to detect and defend against bacteria and their by-products, using a variety of intricate defense mechanisms. The pulp houses specialized cells known as odontoblasts, which encounter harmful substances produced by oral bacteria. These cells identify pathogens at an early stage and commence the immune system response. As bacteria approach the pulp, various cell types within the pulp, such as different immune cells, stem cells, fibroblasts, as well as neuronal and vascular networks, contribute a range of defense mechanisms. Therefore, the immune system is present in the healthy pulp to restrain the initial spread of pathogens, and then in the inflamed pulp, it prepares the conditions for necrosis or regeneration, so inflammatory response mechanisms play a critical role in maintaining tissue homeostasis. This review aims to consolidate the existing literature on the immune system in dental pulp, encompassing current knowledge on this topic that explains the diverse mechanisms of recognition and defense against pathogens exhibited by dental pulp cells, elucidates the mechanisms of innate and adaptive immunity in inflamed pulp, and highlights the difference between inflamed and normal pulp tissue.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"369-386"},"PeriodicalIF":0.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141499948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome. 一个患有巨脑畸形-多发性畸形-多指畸形-脑积水综合征的儿童是由 Cyclin D2 的一个新发突变(p.Gln277X)引起的。
DNA and cell biology Pub Date : 2024-07-01 Epub Date: 2024-05-03 DOI: 10.1089/dna.2023.0391
Mei-Fang Zhao, Song-Lin Zhang, YangZiYu Xiang, Qian Wang, Gao-Hui Cao, Ping-Ping Zhang, Liang-Liang Fan, Rong Yu, Ya-Li Li
{"title":"A <i>de novo</i> Mutation (p.Gln277X) of <i>Cyclin D2</i> is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.","authors":"Mei-Fang Zhao, Song-Lin Zhang, YangZiYu Xiang, Qian Wang, Gao-Hui Cao, Ping-Ping Zhang, Liang-Liang Fan, Rong Yu, Ya-Li Li","doi":"10.1089/dna.2023.0391","DOIUrl":"10.1089/dna.2023.0391","url":null,"abstract":"<p><p>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH), a type of overgrowth syndrome, is characterized by progressive megalencephaly, cortical brain malformations, and distal limb anomalies. Previous studies have revealed that the overactivity of the phosphatidylinositol 3-kinase-Protein kinase B pathway and the increased cyclin D2 (CCND2) expression were the main factors contributing to this disease. Here, we present the case of a patient who exhibited megalencephaly, polymicrogyria, abnormal neuronal migration, and developmental delay. Serum tandem mass spectrometry and chromosome examination did not detect any metabolic abnormalities or copy number variants. However, whole-exome sequencing and Sanger sequencing revealed a <i>de novo</i> nonsense mutation (NM_001759.3: c.829C>T; p.Gln277X) in the <i>CCND2</i> gene of the patient. Bioinformatics analysis predicted that this mutation may disrupt the structure and surface charge of the CCND2 protein. This disruption could potentially prevent polyubiquitination of CCND2, leading to its resistance against degradation. Consequently, this could drive cell division and growth by altering the activity of key cell cycle regulatory nodes, ultimately contributing to the development of MPPH. This study not only presents a new case of MPPH and expands the mutation spectrum of <i>CCND2</i> but also enhances our understanding of the mechanisms connecting <i>CCND2</i> with overgrowth syndromes.</p>","PeriodicalId":93981,"journal":{"name":"DNA and cell biology","volume":" ","pages":"325-330"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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