es/iode’s Post

[ #metastasis #review ] Decoding the interplay between genetic and non-genetic drivers of metastasis This review mainly talks about: - A framework for non-genetic variation and somatic evolution in cancer - Genetic drivers of metastasis - Phenotypic plasticity as an important source of metastatic traits - The first phase of metastasis: dissemination - Dormancy and outbreak - Immune evasion - Metabolic plasticity - Adaptation to therapy and other macroenvironmental cues https://lnkd.in/dAuCyYpf

The incidence and prevalence of SLE in North America are 23.2 and 241 per 100,000 people per year respectively while the incidence in Africa is 0.3 per 100,000 people per year. The study aims to predict the autoimmune response of killer T-cells in a patient suffering from Systemic Lupus Erythematosus by searching for variations in genes regulating the activities of Killer T cells. An approximate matching algorithm applying the Boyer-Moore Algorithm for the matching algorithm. Nucleotide sequences of each of the genes liked to Killer T-cells in reference human genome to DNA sequences of SLE patients. The threshold on all single nucleotide polymorphisms (SNPs) is set to 10% of the nucleotide sequence length of the gene. For 50% of susceptibility genes with no match the patient is susceptible. Sixteen (16) patients show that they are all guaranteed to manifest autoimmune Killer T-cells. The algorithm can predict the response of killer T-cells and improve the early detection and treatment of SLE patients. A similar approach can be used for genetically linked diseases like cancer.  by Wai Lok Woo, Ephraim Nwoye, Fidelis P Obinna, Nwosu O I, Balogun O Jessy, Raid Rafi Al-Nima #snp #tcells #autoimmunedisease #computationalbiology #genome #genetics https://lnkd.in/gYQ_8FNP

Cai T, et. al. (2022) High iodine promotes autoimmune thyroid disease by activating hexokinase 3 and inducing polarization of macrophages towards M1. Front. Immunol. 13:1009932. ''Autoimmune thyroid disease (AITD), the most common autoimmune disease, includes Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). Currently, the pathogenesis of AITD is not fully understood. Our study aimed to examine the presence of macrophage polarization imbalance in AITD patients, to investigate whether high iodine can cause macrophage polarization imbalance, and to investigate the role of key genes of metabolic reprogramming in macrophage polarization imbalance caused by high iodine. We synergistically used various research strategies such as systems biology, clinical studies, cell culture and mouse disease models. Gene set enrichment analysis (GSEA) revealed that M1 macrophage hyperpolarization was involved in the pathogenesis of AITD. In vitro and in vivo experiments showed that high iodine can affect the polarization of M1 or M2 macrophages and their related cytokines. Robust rank aggregation (RRA) method revealed that hexokinase 3 (HK3) was the most aberrantly expressed metabolic gene in autoimmune diseases. In vitro and in vivo studies revealed HK3 could mediate macrophage polarization induced by high iodine. In summary, hyperpolarization of M1-type macrophages is closely related to the pathogenesis of AITD. High iodine can increase HK3 expression in macrophages and promote macrophage polarization towards M1. Targeting HK3 can inhibit M1 polarization induced by high iodine.'' https://lnkd.in/darKqgBj

Unlocking Genetic Clues in Lymphedema Research 🚨 Recent discoveries in the FLT4 gene have brought us closer to understanding hereditary lymphedema, particularly Milroy disease. A compelling study has revealed that mutations in VEGFR3 (FLT4) result in lymphatic vessel dysfunction, leading to congenital lymphedema. These findings are a step forward for targeted therapies and may pave the way for future gene-editing treatments. #Genetics #HealthcareInnovation #Lymphedema #FLT4 #GenomicMedicine #MedicalResearch

🌎 This World Parkinson's Day, we're showing our support for those living with Parkinson's disease. Parkinson's disease is one of a group of neurodegenerative conditions that impact an estimated 60 million people worldwide. In their compelling article, "Neurodegenerative conditions: turning a corner to better treatment?", CDP’s Maria Alejandra Sanchez and Karla E. Sanchez Sanchez illuminate the remarkable strides made towards enhancing treatments for neurodegenerative diseases, with a particular focus on RNA-based therapeutics and ground-breaking delivery methods. They delve into the precision of RNA therapy in targeting genetic mutations and the potential of branched siRNA, alongside innovative strategies to navigate the complexities of the blood-brain barrier. Such advancements herald a new era of less invasive, more targeted therapeutic approaches. Read the article here: https://lnkd.in/gjZFFmBe #ParkinsonsAwareness, #ParkinsonsResearch, #Neurodegeneration Connect with Maria Alejandra Sanchez and Karla E. Sanchez

Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations #RareDisease #Genetics They performed exome sequencing in a cohort of 299 pediatric participants (279 families) with intrahepatic cholestasis and proposed PSKH1 as a novel candidate gene in 4 families. Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. In addition, a homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. https://lnkd.in/d9PUg6FH

🌟 The article, titled "Relationship between vaginal and oral microbiome in patients of human papillomavirus (HPV) infection and cervical cancer", was published in Journal of Translational Medicine. The aim of this study was to assess the microbial variations and biomarkers in the vaginal and oral environments of patients with human papillomavirus (HPV) and cervical cancer (CC) and to develop novel prediction models. 🔍 Microbiota analysis was conducted using full-length 16S rDNA gene sequencing with the PacBio platform. HPV infection and CC impact both the vaginal and oral microenvironments, affecting systemic metabolism and the synergy between bacteria. This suggests that the use of oral flora markers is a potential screening tool for the diagnosis of CC. 🔬 #BMKGENE provided sequencing and analysis services of full-length 16S rDNA gene for this study. #FullLength16S #Microbiome #HumanPapillomavirus #CervicalCancer

💡 The article was published in Journal of Translational Medicine, called Relationship between vaginal and oral microbiome in patients of human papillomavirus (HPV) infection and cervical cancer. 🌈 The aim of this study was to assess the microbial variations and biomarkers in the vaginal and oral environments of patients with human papillomavirus (HPV) and cervical cancer (CC) and to develop novel prediction models. 🔍 Microbiota analysis was conducted using full-length 16S rDNA gene sequencing with the PacBio platform. HPV infection and CC impact both the vaginal and oral microenvironments, affecting systemic metabolism and the synergy between bacteria. This suggests that the use of oral flora markers is a potential screening tool for the diagnosis of CC. 🔬 BMKGENE provided sequencing and analysis services of full-length 16S rDNA gene for this study. #FullLength16S #Microbiome #HumanPapillomavirus #CervicalCancer #BMKGENE

The convergence of three primordial cellular functions — autophagy, immunity and mitochondrial function and their intimate association with Parkinson’s disease (PD) RAB GTPase, RAB32 Ser71Arg, is a novel genetic risk factor for PD, with reduced penetrance. The variant was found in individuals with PD from multiple ethnic groups, with the same haplotype. RAB32 Arg71 activates LRRK2 kinase and is the first gene identified that directly connects the dots between earlier discoveries and optimization of the levels of the neurotransmitter dopamine, which is lost in PD as cells that produce it progressively die. https://lnkd.in/diDWR5zV

📃Scientific paper: A review of the genetic background in complicated WT1-related disorders Abstract: The Wilms tumor 1 ( WT1 ) gene was first identified in 1990 as a strong candidate for conferring a predisposition to Wilms tumor. The WT1 protein has four zinc finger structures (DNA binding domain) at the C-terminus, which bind to transcriptional regulatory sequences on DNA, and acts as a transcription factor. WT1 is expressed during kidney development and regulates differentiation, and is also expressed in glomerular epithelial cells after birth to maintain the structure of podocytes. WT1 -related disorders are a group of conditions associated with an aberrant or absent copy of the WT1 gene. This group of conditions encompasses a wide phenotypic spectrum that includes Denys–Drash syndrome (DDS), Frasier syndrome (FS), Wilms–aniridia–genitourinary–mental retardation syndrome, and isolated manifestations of nephropathy or Wilms tumor. The genotype–phenotype correlation is becoming clearer: patients with missense variants in DNA binding sites including C2H2 sites manifest DDS and develop early-onset and rapidly developing end-stage kidney disease. A deeper understanding of the genotype–phenotype correlation has also been obtained in DDS, but no such correlation has been observed in FS. The incidence of Wilms tumor is higher in patients with DDS and exon-truncating variants than in those with non-truncating variants. Here, we briefly describe the genetic background of this highly complicated WT1 -related disorders. Continued on ES/IODE ➡️ https://etcse.fr/XIhp3 ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.