Deciphering the Roles of IFITM1 in Tumors
AbstractInterferon (IFN)-induced transmembrane protein 1 (IFITM1), a member of the IFN-induced transmembrane protein family, is reported to be highly expressed in tumor tissues as well as cancer cell lines, and it is an independent prognostic biomarker for patients with certain tumor types, such as gallbladder carcinoma, esophageal adenocarcinoma, colorectal cancer, and gastric cancer. Moreover, overexpression of IFITM1 promotes tumor cell proliferation, invasion, metastasis, angiogenesis, and therapeutic resistance, including endocrine therapy, chemotherapy, and radiotherapy resistance. Due to these diverse functions of I...
Source: Molecular Diagnosis and Therapy - May 10, 2020 Category: Molecular Biology Source Type: research
Circulating Nucleic Acids in Maternal Plasma and Serum in Pregnancy Complications: Are They Really Useful in Clinical Practice? A Systematic Review
ConclusionDue to the heterogeneity of the populations enrolled, the scarcity of the studies that adjusted the CNAPS values for possible confounding factors, and the difficulty in interpreting the published data, no conclusion regarding the statistical robustness and clinical relevance of the data can be made at present. If assayed at the third trimester, the CNAPS have, however, shown better performance, and could be used in populations already at risk of developing complications as suggested by the presence of other clinical features. Other CNAPS, including miRNA, are under investigation, especially for the screening of g...
Source: Molecular Diagnosis and Therapy - May 3, 2020 Category: Molecular Biology Source Type: research
Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020
AbstractEpidermolysis bullosa (EB) is a group of rare genetic disorders for which significant progress has been achieved in the development of molecular therapies in the last few decades. Such therapies require knowledge of mutant genes and specific mutations, some of them being allele specific. A relatively large number of clinical trials are ongoing and ascertaining the clinical efficacy of gene, protein or cell therapies or of repurposed drugs, mainly in recessive dystrophic EB. It is expected that some new drugs may emerge in the near future and that combinations of different approaches may result in improved treatment...
Source: Molecular Diagnosis and Therapy - April 22, 2020 Category: Molecular Biology Source Type: research
Circulating MicroRNAs as Potential Molecular Biomarkers for Intracranial Aneurysmal Rupture
ConclusionsOur study determined the plasma miRNA signature of ruptured IAs and identified eight candidate miRNAs that could be useful biomarkers for this condition. We hypothesize that these differentially expressed miRNAs may play pivotal roles in IA pathology. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 21, 2020 Category: Molecular Biology Source Type: research
Improving Molecular Therapy in the Kidney
AbstractMutations in approximately 80 genes have been implicated as the cause of various genetic kidney diseases. However, gene delivery to kidney cells from the blood is inefficient because of the natural filtering functions of the glomerulus, and research into and development of gene therapy directed toward kidney disease has lagged behind as compared with hepatic, neuromuscular, and ocular gene therapy. This lack of progress is in spite of numerous genetic mouse models of human disease available to the research community and many vectors in existence that can theoretically deliver genes to kidney cells with high efficie...
Source: Molecular Diagnosis and Therapy - April 21, 2020 Category: Molecular Biology Source Type: research
Use of an Integrated Pan-Cancer Oncology Enrichment Next-Generation Sequencing Assay to Measure Tumour Mutational Burden and Detect Clinically Actionable Variants
ConclusionsThe TSO500 assay accurately measures TMB, microsatellite instability, SNVs, indels, copy-number/structural variation and gene fusions when compared to WGS and orthogonal technologies. Coupled with a clinical annotation pipeline, this provides a powerful methodology for identification of clinically actionable variants. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 17, 2020 Category: Molecular Biology Source Type: research
Exploiting Circulating MicroRNAs as Biomarkers in Psychiatric Disorders
AbstractNon-invasive peripheral biomarkers play a significant role in both disease diagnosis and progression. In the past few years, microRNA (miRNA) expression changes in circulating peripheral tissues have been found to be correlative with changes in neuronal tissues from patients with neuropsychiatric disorders. This is a notable quality of a biomolecule to be considered as a biomarker for both prognosis and diagnosis of disease. miRNAs, members of the small non-coding RNA family, have recently gained significant attention due to their ability to epigenetically influence almost every aspect of brain functioning. Empiric...
Source: Molecular Diagnosis and Therapy - April 16, 2020 Category: Molecular Biology Source Type: research
Deciphering the DNA Methylome of Polycystic Ovary Syndrome
AbstractPolycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. PCOS is characterized by ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations brought about by intricate mechanisms of interplay between the genome and the environment. The popularity of epigenome-wide association studies (EWASs) is helping to facilitate the discovery of environment-mediated molecular modification in PCOS from disease etiology to epigenetic marker discovery. Current epigenetic studies have provided convincing observational evidence linking epigenetic regulation with...
Source: Molecular Diagnosis and Therapy - April 14, 2020 Category: Molecular Biology Source Type: research
Development of a Rapid and Sensitive IDH1/2 Mutation Detection Method for Glial Tumors and a Comparative Mutation Analysis of 236 Glial Tumor Samples
ConclusionSanger sequencing and IHC-based methods have shortcomings when detecting mutations in glial tumors so can missIDH1/2 mutations in glial tumors when used alone without proper modifications. 3m-ARMS-based mutation detection is fast and simple with potential for use as a diagnostic test for the majority of hot spot mutations inIDH1/2 genes. It can detectIDH1/2 mutations within an hour so can be adapted for intraoperative diagnosis. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 8, 2020 Category: Molecular Biology Source Type: research
Use of DAMPs and SAMPs as Therapeutic Targets or Therapeutics: A Note of Caution
AbstractThis opinion article discusses the increasing attention paid to the role of activating damage-associated molecular patterns (DAMPs) in initiation of inflammatory diseases and suppressing/inhibiting DAMPs (SAMPs) in resolution of inflammatory diseases and, consequently, to the future roles of these novel biomarkers as therapeutic targets and therapeutics. Since con trolled production of DAMPs and SAMPs is needed to achieve full homeostatic restoration and repair from tissue injury, only their pathological, not their homeostatic, concentrations should be therapeutically tackled. Therefore, distinct caveats are prop...
Source: Molecular Diagnosis and Therapy - April 3, 2020 Category: Molecular Biology Source Type: research
Immunoscore ® : A Diagnostic Assay for Clinical Management of Colon Cancer
AbstractImmunoscore® is an in vitro diagnostic assay that is designed to predict the risk of relapse in patients with early-stage colon cancer, thus helping to guide treatment strategies. Immunoscore has CE-IVD status in the EU, is CLIA certified in the USA, and is commercially available in many other countries worldwide. It is designed to be used in conjunction with TNM staging. Immunoscore uses digital images of tumour samples and advanced software to quantify the densities of CD3+ and CD8+ lymphocytes in defined regions of the tumour (i.e. core tumour and the invasive margin). A risk score is calculated, with a lower I...
Source: Molecular Diagnosis and Therapy - March 29, 2020 Category: Molecular Biology Source Type: research
Reduced Efficacy of Biological Drugs in Psoriatic Patients with HLA-A Bw4-80I KIR Ligands
ConclusionWe suggest that the HLA-A Bw4-80I epitope could be a marker of reduced responsiveness to biologics. The possible reason for this is an increase of tumour necrosis factor (TNF)- α and the silencing of NK cells through the predominant interaction with the KIR3DL/S pair. HLA-KIR affinities might lead to a more efficient way to prescribe biologics. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 17, 2020 Category: Molecular Biology Source Type: research
Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns
ConclusionsMini-sequencing for the simultaneous detection of 25CFTR gene variants improves the screening of Brazilian newborns and decreases the number of inconclusive cases. This method uses minimal hands-on time and is suited for rapid screening, which reduces sample processing costs. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 16, 2020 Category: Molecular Biology Source Type: research
Intrathecal IgM as a Prognostic Marker in Multiple Sclerosis
AbstractOne of the great challenges related to multiple sclerosis (MS) research is the identification of markers of prognosis and treatment response. In the last couple of decades, an association between intrathecally produced immunoglobulin M (IgM) and a more severe course of the disease has been suggested. Therefore, the objective of this literature review was to gather and review evidence from studies on intrathecally produced IgM as a prognostic marker of clinically isolated syndrome (CIS) converting to clinically definite MS (CDMS), the prognosis of MS and treatment response in patients with MS. This was accomplished ...
Source: Molecular Diagnosis and Therapy - March 10, 2020 Category: Molecular Biology Source Type: research
Contribution of Histone Deacetylases in Prognosis and Therapeutic Management of Cholangiocarcinoma
AbstractCholangiocarcinoma (CCA), a malignant tumor that occurs in the epithelium of the biliary tract, has a very poor prognosis because affected patients are frequently diagnosed at an advanced stage and recurrence after resection is common. Over the last two decades, our understanding of the molecular biology of this malignancy has expanded, and various studies have explored targeted therapy for CCA in order to improve patient survival. The histone acetylation/deacetylation equilibrium is affected in carcinogenesis, leading to altered chromatin structure and therefore changes in gene expression. Understanding the molecu...
Source: Molecular Diagnosis and Therapy - March 2, 2020 Category: Molecular Biology Source Type: research
