Article
Biochemistry & Molecular Biology
Eun-Ji Ko, Min-Hye Kim, Do-Ye Kim, Hyojin An, Sun-Hee Leem, Yung Hyun Choi, Heui-Soo Kim, Hee-Jae Cha
Summary: The study showed that HERV-K119 env knockout significantly increased cell migration and invasion in THP-1 cells, leading to cell-specific differentiation and upregulation of macrophage markers. These results, contrary to those in cancer cells, reveal the potential role of HERV-K119 env in immune regulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Virology
Konstantina Kitsou, Pagona Lagiou, Gkikas Magiorkinis
Summary: Human Endogenous Retroviruses (HERVs) are viral sequences integrated into the human genome, resulting from ancient exogenous retrovirus infection of human germ-line cells. Their aberrant expression is linked to human disease, including cancer. This review article discusses the presumed role of HERVs in carcinogenesis, their diagnostic and prognostic implications, and their potential as targets for cancer therapeutics. High-throughput sequencing approaches will further clarify HERV participation in human physiological and pathological processes.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Article
Health Care Sciences & Services
Tara T. Doucet-O'Hare, Jared S. Rosenblum, Ashish H. Shah, Mark R. Gilbert, Zhengping Zhuang
Summary: HERV-K HML-2 is associated with the pathogenesis of AT/RT, and loss of SMARCB1 expression leads to dysfunctional chromatin remodeling and tumor growth. Future studies may explore HML-2 as a diagnostic criteria and treatment biomarker.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Mehdi Gholami Barzoki, Somayeh Shatizadeh Malekshahi, Zahra Heydarifard, Mohamad javad Mahmodi, Haleh Soltanghoraee
Summary: Background: Human endogenous retroviruses (HERVs) entered the germ line by retroviral infection from a distant ancestor over 30 million years ago and constitute 8% of the human genome. The majorities of HERVs are non-protein coding and lack function because of the accumulation of mutations, insertions, deletions, and/or truncations. However, a small number of HERV genes carried ORFs with beneficial functions for the host. Methods & results: In this review, we summarize the structural and important biological roles of two HERV gene products termed Syncytin-1 and Syncytin-2 in human placenta development. Indeed, two retroviral gene products that have important roles in mammalian development, Syncytin-1 (HERV-W) and Syncytin-2 (HERV-FRD), are prime examples encoded by env genes and expressed in the placental trophoblasts. Several pivotal studies revealed that Syncytins are fundamental genes implicated in regulating trophoblast fusion and placenta morphogenesis. Conclusion: Interestingly, it has been suggested that syncytins may also be implicated in non-fusogenic activities leading to apoptosis, proliferation, and immunosuppressive activities.
MOLECULAR BIOLOGY REPORTS
(2023)
Review
Oncology
Francesco Tamiro, Andrew P. Weng, Vincenzo Giambra
Summary: Leukemia-initiating cells (LIC) are unique cells in different types of leukemia that have self-renewing capabilities and produce tumors, which are functionally distinct from bulk leukemia cells. Current conventional treatments are not effective in eliminating LICs, hence innovative therapeutics targeting LICs hold promise for developing an effective cure for ALL.
Article
Oncology
Yongzhong Wei, Huilin Wei, Yinfeng Wei, Aihua Tan, Xiuyong Chen, Xiuquan Liao, Bo Xie, Xihua Wei, Lanxiang Li, Zengjing Liu, Shengkang Dai, Adil Khan, Xianwu Pang, Nada M. A. Hassan, Kai Xiong, Kai Zhang, Jing Leng, Jiannan Lv, Yanling Hu
Summary: This study analyzed the transcriptional profile of human endogenous retrovirus HERV-K in breast cancer and found that HERV-K expression profiles may serve as biomarkers and therapeutic targets for breast cancer.
FRONTIERS IN ONCOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Shabnam Ansari, Nidhi Gupta, Rohit Verma, Oinam N. Singh, Jyoti Gupta, Amit Kumar, Mukesh Kumar Yadav, Akshay Binayke, Mahima Tiwari, Neha Periwal, Vikas Sood, Shailendra Mani, Amit Awasthi, Shalimar, Baibaswata Nayak, C. T. Ranjith-Kumar, Milan Surjit
Summary: Coronavirus-induced disease-19 (COVID-19), caused by SARS-CoV-2, is a global health challenge. Human endogenous retroviruses (HERVs) play important roles in embryonic development and disease manifestation. This study found increased activity of several HERVs in SARS-CoV-2-infected cells, while the HERV-R envelope was downregulated in cell-based models and COVID-19 patients. Overexpression of HERV-R inhibits SARS-CoV-2 replication and the extracellular signal-regulated kinase (ERK) is involved in regulating its antiviral activity. The crosstalk between ERK and p38 MAPK controls the synthesis of HERV-R envelope protein, which modulates SARS-CoV-2 replication.
Article
Biochemistry & Molecular Biology
George R. Young, Aaron K. W. Ferron, Veera Panova, Urszula Eksmond, Peter L. Oliver, George Kassiotis, Jonathan P. Stoye
Summary: Inbred mice genomes contain around 50 endogenous murine leukemia virus (MLV) loci, with the Gv1 locus being important for controlling MLV transcription and cell-surface presentation of the G(IX) antigen. Zfp998 gene is identified as Gv1 and is essential for determining the G(IX)(+) phenotype, highlighting its role in epigenetic suppression of endogenous MLVs and control of endogenous retroviruses.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Biochemistry & Molecular Biology
Eun-Ji Ko, Mee-Sun Ock, Yung-Hyun Choi, Juan L. Iovanna, Seyoung Mun, Kyudong Han, Heui-Soo Kim, Hee-Jae Cha
Summary: HERV-K env gene affects tumorigenic characteristics, including cell proliferation, migration, and tumor colonization through NUPR1 related pathway, as shown by knockout experiments in colorectal cancer cell lines using CRISPR-Cas9 system.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Immunology
Sara Coelho Rangel, Michelly Damasceno da Silva, Amanda Lopes da Silva, Juliana de Melo Batista dos Santos, Lucas Melo Neves, Ana Pedrosa, Fernanda Monteiro Rodrigues, Caio dos Santos Trettel, Guilherme Eustaquio Furtado, Marcelo Paes de Barros, Andre Luis Lacerda Bachi, Camila Malta Romano, Luiz Henrique Da Silva Nali
Summary: This review summarizes the multiple roles of Human Endogenous Retroviruses (HERVs) in the human genome and their involvement in various diseases. HERVs, derived from ancient exogenous retroviral infections, play critical roles in physiological activities but their reactivation is linked to several diseases.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Desheng Wang, Marta T. Gomes, Yanfei Mo, Clare C. Prohaska, Lu Zhang, Sarvesh Chelvanambi, Matthias A. Clauss, Dongfang Zhang, Roberto F. Machado, Mingqi Gao, Yang Bai
Summary: Pulmonary arterial hypertension (PAH) is a pulmonary vascular disease characterized by progressively elevated pulmonary arterial pressures. Inflammation plays a significant role in the pathogenesis and progression of PAH, and several viruses, such as severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), human endogenous retrovirus K (HERV-K), and human immunodeficiency virus (HIV), can cause PAH partially due to acute and chronic inflammation. This review discusses the connections between HERV-K, HIV, SARS-CoV-2, and PAH, aiming to stimulate research on new therapeutic options and provide new targets for disease treatment.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Hematology
Lili Song, Bo Yu, Yi Yang, Jianwei Liang, Yingwen Zhang, Lixia Ding, Tianyi Wang, Xinyu Wan, Xiaomin Yang, Jingyan Tang, Shengyue Wang, Benshang Li, Yanxin Li, Haizhong Feng
Summary: The study identified the R209C mutation of GNAO1 as a new ALL risk loci and revealed its cooperative mechanism with E/R fusion, suggesting GNAO1 as a potential therapeutic target for leukemia.
Article
Microbiology
Amanda Laine, Xiaoxing Wang, Kathryn Ni, Sarah E. B. Smith, Rayan Najjar, Leanne S. S. Whitmore, Michael M. Yacoub, Alison Bays, Michael Gale, Tomas Mustelin
Summary: Many patients with autoimmune diseases have autoantibodies against proteins encoded by genomic retroelements, suggesting a lack of immune tolerance. In this study, the researchers found that transmembrane envelope (Env) protein encoded by HERV-K102 is increased in rheumatoid arthritis (RA) patients, while HERV-K108 expression is higher in other immune cells. Patient autoantibodies recognized endogenously expressed Env in breast cancer cells and RA neutrophils. The findings suggest that HERV-K102 is the main contributor to cell surface Env on neutrophils in RA.
Review
Virology
Yuhe Song, Xiang Li, Xiaoman Wei, Jie Cui
Summary: HERVs, formed through ancient integration of exogenous retroviruses into the human genome, are considered viral fossils. Although most HERVs have lost coding capability, they still function in regulating host gene expression. Activation of HERVs plays important roles in response to viral infections and diseases, and they have the potential to be used as biomedical markers for early disease diagnosis.
Article
Microbiology
Zihao Yuan, Yuntao Yang, Ningyan Zhang, Claudio Soto, Xiaoqian Jiang, Zhiqiang An, Wenjin Jim Zheng
Summary: The study reveals significant differential expression of many HERV LTR elements in GBM and normal brain tissues. The expression levels of these elements could potentially be developed as biomarkers for GBM treatments.
Article
Oncology
Lavina Ery Paula Bangit, Katarzyna Derwich
Summary: CAR-T cell therapy is a new treatment for pediatric leukemia that provides flexibility in recognizing proteins, carbohydrates, and lipids. Challenges include unrecognized tumor proteins potentially escaping, transient CAR T cell expression, and high treatment costs. Recent advancements involve combining CAR-T cells with NK cells and cytokines to improve efficacy and mitigate risks.
JOURNAL OF ADOLESCENT AND YOUNG ADULT ONCOLOGY
(2022)
Article
Oncology
Patrycja Sosnowska-Sienkiewicz, Agata Kaczmarek, Katarzyna Maciejczyk, Danuta Januszkiewicz-Lewandowska, Przemyslaw Mankowski
Summary: This study aimed to describe a case report of a 3-day-old infant with an ovarian lesion detected on postnatal ultrasound, suggesting a potential malignancy. Laparoscopy and mini-laparotomy were performed, ruling out torsion. The ovary was preserved and histopathologic examination confirmed the absence of malignant nature.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2023)
Article
Audiology & Speech-Language Pathology
Bartosz Polski, Patrycja Sosnowska-Sienkiewicz, Jaroslaw Szydlowski, Danuta Januszkiewicz-Lewandowska
Summary: This study evaluated the usefulness of different methods in detecting drug-induced hearing loss and monitoring the hearing status of children after cancer treatment. The results showed a relatively high frequency of hearing loss in children treated for neuroblastoma and extracranial germ cell tumors, which significantly affects speech understanding.
AUDIOLOGY AND NEURO-OTOLOGY
(2023)
Letter
Dermatology
Karolina Rassek, Katarzyna Izykowska, Magdalena Zurawek, Karina Nowicka, Monika Joks, Karolina Olek-Hrab, Berenika Olszewska, Malgorzata Sokolowskae-Wojdylo, Wojciech Biernat, Roman J. Nowicki, Grzegorz K. Przybylski
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2023)
Review
Oncology
Katarzyna Kuchalska, Katarzyna Derwich, Anna Gotz-Wieckowska
Summary: Neuroblastoma (NBL) is a common extracranial solid tumor in pediatric patients that develops from sympathetic tissue. This study examined the incidence of ophthalmologic changes in NBL patients and their correlation with prognosis. Data from 7 papers and 68 case reports were analyzed, showing that ophthalmologic signs occurred in 17.89% of NBL cases, with 10.68% presenting these signs at diagnosis. The most frequent ophthalmologic symptom was Horner syndrome. Age, primary tumor site, and survival rate were associated with ophthalmologic symptoms. Diagnosing NBL with isolated ophthalmologic manifestations can be challenging, requiring multidisciplinary care.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2023)
Review
Oncology
Marta Andrzejewska, Jakub Czarny, Katarzyna Derwich
Summary: This article reviews the latest updates on the management of pediatric gastrointestinal tumors, focusing on the advances in molecular biology of the disease and discussing emerging treatment with kinase inhibitors as targeted therapy.
Article
Genetics & Heredity
Zeinab Ghorbanoghli, Mariette van Kouwen, Birgitta Versluys, Delphine Bonnet, Christine Devalck, Julie Tinat, Danuta Januszkiewicz-Lewandowska, Consuelo Calvino Costas, Edouard Cottereau, James C. H. Hardwick, Katharina Wimmer, Laurence Brugieres, Chrystelle Colas, Hans F. A. Vasen
Summary: This study suggests a beneficial effect of surveillance of the digestive tract and brains in patients with CMMRD.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Ewa Strauss, Danuta Januszkiewicz-Lewandowska, Alicja Sobaniec, Anna Gotz-Wieckowska
Summary: This study evaluates the hypothesis that variation in the selenoprotein-encoding genes affects the risk of ROP and other comorbidities in premature newborns. The study found that the SELENOP rs3877899A allele is associated with the risk of ELGA and ROP requiring treatment. Additionally, factors such as the number of RBC transfusions, ELGA, surfactant treatment, and coexistence of the rs3877899A allele with ELGA were independent predictors of ROP onset and progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Nutrition & Dietetics
Marta Suminska, Rafal Podgorski, Piotr Fichna, Artur Mazur, Marta Fichna
Summary: This study aimed to evaluate the differences in steroid metabolism between children with obesity and those with normal weight, especially in relation to sex and puberty progress. Significant differences were found in the excretion of steroid metabolites between normal weight children and children with obesity, particularly in prepubertal children.
Article
Genetics & Heredity
Ewa Strauss, Anna Gotz-Wieckowska, Alicja Sobaniec, Anna Chmielarz-Czarnocinska, Dawid Szpecht, Danuta Januszkiewicz-Lewandowska
Summary: This study aimed to investigate the association between four functional single nucleotide polymorphisms (SNPs) in the hypoxia-related pathway and the development of complications of prematurity. The findings suggest that the HIF1A rs11549465 T allele is a protective factor against necrotizing enterocolitis (NEC), but may increase the risk of diffuse white matter injury (DWMI) in newborns exposed to hypoxia. Additionally, the rs11549467 A allele is a protective factor against respiratory distress syndrome (RDS). No significant associations with VEGFA SNPs were observed.
Article
Endocrinology & Metabolism
Marta Fichna, Piotr P. Malecki, Magdalena Zurawek, Katarzyna Furman, Boleslaw Gebarski, Piotr Fichna, Marek Ruchala
Summary: The study aimed to evaluate circulating autoantibodies in first-degree relatives of patients with Addison's disease and determine their correlation with specific genetic risk factors. The findings suggest that carriers of the PTPN22 rs2476601 T allele are at a higher risk of developing autoantibodies to endocrine antigens.
ENDOCRINE CONNECTIONS
(2023)
Article
Pediatrics
Katarzyna Bobeff, Agata Pastorczak, Zuzanna Urbanska, Walentyna Balwierz, Edyta Juraszewska, Jacek Wachowiak, Katarzyna Derwich, Magdalena Samborska, Krzysztof Kalwak, Iwona Dachowska-Kalwak, Pawel Laguna, Iwona Malinowska, Katarzyna Smalisz, Jolanta Gozdzik, Aleksandra Oszer, Bartosz Urbanski, Maciej Zdunek, Tomasz Szczepanski, Wojciech Mlynarski, Szymon Janczar
Summary: Venetoclax has shown significant clinical activity in relapsed or refractory leukemias in paediatric patients in Poland. Although not currently incorporated into paediatric treatment schedules, it has been used in patients who have failed conventional therapy. This study aims to gather clinical data and correlates of paediatric patients treated with Venetoclax to guide its clinical use and stimulate further research.
Article
Oncology
Marta Kazimierska, Marta Podralska, Magdalena Zurawek, Tomasz Wozniak, Marta Elzbieta Kasprzyk, Weronika Sura, Wojciech Losiewski, Iwona Ziolkowska-Suchanek, Joost Kluiver, Anke van den Berg, Natalia Rozwadowska, Agnieszka Dzikiewicz-Krawczyk
Summary: The transcription factor MYC plays a crucial role in the development and maintenance of various types of cancer by binding to specific E-box sequences in the genome to regulate gene expression. Through the use of CRISPR/Cas9 technology and high-throughput screening, this study identified essential MYC-regulated genes involved in pathways associated with cancer development. This research provides a novel approach to explore MYC-dependent vulnerabilities in cancer cells, which is of significant importance.
MOLECULAR ONCOLOGY
(2023)
Article
Genetics & Heredity
Gabriela Telman, Ewa Strauss, Patrycja Sosnowska-Sienkiewicz, Magdalena Halasz, Danuta Januszkiewicz-Lewandowska
Summary: The identification of cancer predisposition syndromes (CPSs) is crucial in understanding the etiology of pediatric cancers. This article provides a comprehensive analysis of three unique cases involving pediatric patients with CPS who were diagnosed with multiple simultaneous or metachronous cancers. The cases highlight the importance of comprehensive analysis and genetic testing in understanding the underlying mechanisms and guiding treatment strategies.
Article
Chemistry, Medicinal
Donald Bajia, Katarzyna Derwich
Summary: This study investigates the binding of FL118 and irinotecan with the catalytic domain of human protein tyrosine phosphatase-SHP2. The results showed that FL118 is a potent selective inhibitor of PTPN11-associated disorders, with strong binding affinity and stable complex formation.