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Lasted News| News medical| KMD Bioscience Thursday News Title: New research gives unprecedented view of colorectal cancer genetic makeup This study provides a comprehensive analysis of the genomic landscape of CRC, identifying numerous novel driver mutations, SVs, and CNAs and highlighting the distinct molecular characteristics of MSI, MSS, and POL subtypes. The findings offer valuable insights into the complex biology of CRC and potential avenues for targeted therapies. https://lnkd.in/gqyCXuUe https://lnkd.in/dJnPExyr #ColorectalCancer #GeneticResearch #CRCStudy #KMDBioscience #CancerGenomics #NovelMutations #PrecisionMedicine #CancerSubtypes #MSI #MSS #POL #TargetedTherapies #CancerBiology #ResearchBreakthrough #NewsMedical

Pancreatic cancer is a highly malignant digestive tumor driven by the KRAS gene. Innovative models reflecting the biological behaviour of #pancreaticcancer and genomic traits like genetic engineering & xenograft models, offer hope. Read 'Research progress in the establishment of pancreatic cancer models and preclinical applications' by Weizheng Wu et al. from Cancer Innovation on #SciOpen https://lnkd.in/ep5dd5hb #pancreatic #adenocarcinoma, #genetic #geneticengineering #heterotopic #orthotopic #Research #Science

Role of long-noncoding RNA in diabetic atherosclerosis Diabetes accelerates the development of atherosclerosis, increasing the incidence of cardiovascular events. In atherosclerosis, immune cells called macrophages release molecules such as chemokines and cytokines, causing inflammation and leading to arterial plaque formation. However, significant gaps persist in understanding the exact molecular mechanisms controlling this increased inflammatory response in individuals with diabetes. In a new, preclinical study, researchers identified a long non-coding RNA (lncRNA) sequence that could help them unravel the complex processes underlying diabetic atherosclerosis, potentially paving the way for future therapeutic interventions in humans. Through genetic analysis of a mouse model of diabetic atherosclerosis, the research team identified a specific sequence of long-noncoding RNA, they named MERRICAL, which is involved in recruiting macrophages to the arterial wall. As atherosclerosis progressed in these mice, the researchers found a notable increase in the expression of MERRICAL at arterial lesions—areas where atherosclerosis plaque built up and damaged the arteries. #ScienceMission #ScienceNewsHighlights https://lnkd.in/gyPzACqq

Loss of Heterozygosity from Genetic Drift Loss of heterozygosity (LOH) is a common form of allelic imbalance by which a heterozygous somatic cell becomes homozygous because one of the two alleles gets lost. This form of chromosome instability is sufficient to provide selective growth advantage and has been recognized as a major cause of tumorigenesis. In 1929, the genetic mechanism of LOH was explained for the first time by studying mutant spots induced by X-rays in Drosophila melanogaster. Later on, the detection of LOH has been used to identify genomic regions that harbor putative tumor suppressor genes and to characterize different tumor types, pathological stages, and progression. This identification has provided important insight into the molecular mechanisms of malignant transformation and may deliver the targets for future therapy. Screening for LOH can be performed at polymorphic markers in tumor tissue and liquid biopsies and be a promising diagnostic and prognostic tool. Youtube video: https://lnkd.in/dTKDc56F #nikolaysgeneticslessons

🧠 Given the devastating effects of #Alzheimer’s disease (AD) on patients, their families, and society, a better understanding of the disease and new treatments are urgently needed. 🛎 A team from The University of Colorado Anschutz Medical Campus recently developed and characterized a novel human retinal #organoid (RO) model derived from induced pluripotent stem cells (#iPSCs) from patients with familial AD due to mutations in the amyloid precursor protein gene (APP). They found that AD-ROs largely resemble their healthy control counterparts in cellular composition but display increased levels of Aβ and pTau, recapitulating AD pathology in these APP patients. They also present proof of principle of an assay to quantify amyloid levels in whole ROs. ➡ This in vitro model of the human AD retina constitutes a new human-relevant tool for drug screening, biomarker discovery, and pathophysiological studies. Read more --> https://lnkd.in/g9XTvnzg

🌟 Integrin-Linked Kinase and Retinal Angiogenesis in FEVR 🌟 👁️ Familial Exudative Vitreoretinopathy (FEVR) is a challenging disease characterized by defective retinal angiogenesis, leading to vision complications. A study by Hongryeol Park, Hiroyuki Yamamoto, Lucas Mohn, Lea Ambühl, Kenichi Kanai, Inga Schmidt, Kee-Pyo Kim, Alessia Fraccaroli, Silke Feil, Harald Junge, Eloi Montanez, Wolfgang Berger, Ralf H. Adams investigates the role of integrin-linked kinase (ILK) in retinal angiogenesis and its connection to Wnt signaling and FEVR. 📊 Key Findings: ILK Role: ILK is crucial for retinal angiogenesis and maintaining the blood-retina barrier. Study Models: Inactivation of ILK in mice resulted in sprouting defects, reduced endothelial proliferation, and disruption of the blood-retina barrier, mirroring FEVR phenotypes. Human Impact: Mutations in ILK were identified in FEVR patients, affecting the gene product's function in vitro. 🔍 This research highlights the importance of ILK in retinal health and its potential link to Wnt signaling pathways, providing new insights into the molecular mechanisms underlying FEVR. 📚 Dive into the study to explore the detailed mechanisms and implications for clinical practice. https://lnkd.in/gariJA69 #MedicalResearch #FEVR #RetinalAngiogenesis #WntSignaling #ClinicalInsights #PhysicianUpdate #VisionHealth

RNA-based translation activators for targeted gene upregulation. A molecular technology called "translation-activating RNAs" (taRNAs) shows promise in treating diseases caused by haploinsufficiency, where one functional gene copy is absent. taRNAs are small molecules designed to bind to specific mRNA molecules, regulating their translation into proteins. This approach was successful in increasing mRNA levels for PTEN and ABCA7, genes associated with tumor suppression and Alzheimer's disease. In a human sample of triple-negative breast cancer, taRNAs slowed tumor growth. The technology also restored protein levels in SYNGAP1, a gene linked to epilepsy and impaired neurodevelopment. Read more: https://lnkd.in/dNqvbgcc #rna #tumor #biology #alzheimer #medicalresearch

Time-dependent effects of BRAF-V600E on cell cycling, metabolism, and function in engineered myocardium https://lnkd.in/gDvFHDXF

Skin cancer gene shows promise in heart repair. Researchers at Duke University have discovered that a dangerous mutation found in skin cancers, particularly in the BRAF protein, could have potential for repairing damaged heart tissue. The BRAF mutation, commonly found in aggressive melanomas, induces cell division in skin cancer. In a study using rat heart tissue, the researchers introduced the mutated BRAF gene, prompting cell division and growth. However, this led to a loss of contractile strength in the heart tissue, emphasizing the need for precise control in gene activation. While the findings offer optimism for therapeutic applications in heart regeneration, further research is required for safe and controlled delivery to human patients. Read more: https://lnkd.in/dZj3evbX #protein #brainhealth #research #medical #biology

Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. #RareDisease #Genetics They identified a candidate DCM causal gene, C10orf71, in a large family with 8 patients with DCM by whole-exome sequencing. Four loss-of-function variants of C10orf71 were subsequently identified in an additional group of 492 patients with sporadic DCM from 2 independent cohorts. C10orf71-KO mice had abnormal heart morphogenesis during embryonic development and cardiac dysfunction as adults with altered expression and splicing of contractile cardiac genes. C10orf71-null cardiomyocytes exhibited impaired contractile function with unaffected sarcomere structure. Cardiomyocytes and heart organoids derived from human induced pluripotent stem cells with C10orf71 frameshift variants also had contractile defects with normal electrophysiological activity. https://lnkd.in/d6cGafqf